SlideShare uma empresa Scribd logo

Inbornerrorsofmetabolism

•Transferir como PPT, PDF•
•
B
bnavabi

Inborn Erros of Metabolism

Saúde e medicina
1 de 33
Inborn Errors of Metabolism Namrata Singh M.D
Introduction to IEM ,[object Object],[object Object]
Intro. Contd… ,[object Object]
Intro. Contd… ,[object Object],[object Object],[object Object]
IEM ~~ General approach ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
IEM~~ General approach ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
IEM ~~ General approach ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
IEM ~~ General approach ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
IEM ~~ General approach ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
IEM – Clinical situations ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
IEM – Clinical situations ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
IEM – Clinical situations ,[object Object],[object Object]
IEM – Clinical situations ,[object Object],[object Object],[object Object],[object Object]
IEM Clinical situations ,[object Object],[object Object],[object Object],[object Object],[object Object]
IEM Clinical situations ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
HYPERAMMONEMIA RESP ALKALOSIS ACIDOSIS UREA CYCLE DEFECTS TRANSIENT HYPERAMMONEMIA OF NEWBORN ORGANIC ACIDEMIAS SE CITRULLINE—LOW– EARLY UREA CYCLE DEFECT SLIGHTLY ELEV– TRANSIENT HYPERAMMONEMIA OF NB MARKEDLY ELEV– CITRULLINEMIA & ARGINOSUCCINIC ACIDEMIA
IEM Contd… ,[object Object],[object Object],[object Object],[object Object],[object Object]
IEM Contd… ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
IEM Contd… ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
IEM Contd… ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
IEM~~ Management ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
IEM ~~ Management ,[object Object],[object Object],[object Object],[object Object],[object Object]
IEM~~ Management ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
IEM~~Management ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
IEM~~Management ,[object Object],[object Object],[object Object],[object Object]
IEM  Some associations ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
IEM  Associations ,[object Object],[object Object],[object Object],[object Object],[object Object]
IEM  Associations ,[object Object],[object Object],[object Object],[object Object],[object Object]
IEM  Associations ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
IEM  Associations ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
IEM  Associations ,[object Object],[object Object],[object Object],[object Object]
IEM  Associations ,[object Object],[object Object],[object Object],[object Object],[object Object]
INITIAL FINDINGS ( POOR FEEDING , VOMITING , LETHARGY, CONVULSIONS ,COMA ) METABOLIC DISORDER INFECTION OBTAIN PL. NH3 HIGH NORMAL OBTAIN BLOOD Ph & CO2 OBTAIN BLOOD Ph & CO2 NORMAL ACIDOSIS NORMAL UREA CYCLE DEFECTS ORGANIC ACIDEMIAS AMINOACIDOPATHIES GALACTOSEMIA

Recomendados

Approach to Inborn Errors of Metabolism .. Dr.Padmesh
Approach to Inborn Errors of Metabolism .. Dr.PadmeshApproach to Inborn Errors of Metabolism .. Dr.Padmesh
Approach to Inborn Errors of Metabolism .. Dr.PadmeshDr Padmesh Vadakepat
 
Approach to inborn error of metabolism
Approach to inborn error of metabolismApproach to inborn error of metabolism
Approach to inborn error of metabolismhemang mendpara
 
Inborn error of metabolism
Inborn error of metabolismInborn error of metabolism
Inborn error of metabolismlamiaa Gamal
 
Overview of Inborn errors of metabolism
Overview of Inborn errors of metabolism Overview of Inborn errors of metabolism
Overview of Inborn errors of metabolism subramaniam sethupathy
 
Inborn errors of metabolism
Inborn errors of metabolismInborn errors of metabolism
Inborn errors of metabolismTapeshwar Yadav
 
Inborn Errors of Metabolism
Inborn Errors of MetabolismInborn Errors of Metabolism
Inborn Errors of MetabolismDr. Om J Lakhani
 
TAY-SACHS DISEASE
TAY-SACHS DISEASETAY-SACHS DISEASE
TAY-SACHS DISEASESir. Stymass Kasty
 
Inborn errors of metabolism
Inborn errors of metabolism Inborn errors of metabolism
Inborn errors of metabolism Aseem Jain
 

Recomendados

Approach to Inborn Errors of Metabolism .. Dr.Padmesh
Approach to Inborn Errors of Metabolism .. Dr.PadmeshApproach to Inborn Errors of Metabolism .. Dr.Padmesh
Approach to Inborn Errors of Metabolism .. Dr.PadmeshDr Padmesh Vadakepat
 
Approach to inborn error of metabolism
Approach to inborn error of metabolismApproach to inborn error of metabolism
Approach to inborn error of metabolismhemang mendpara
 
Inborn error of metabolism
Inborn error of metabolismInborn error of metabolism
Inborn error of metabolismlamiaa Gamal
 
Overview of Inborn errors of metabolism
Overview of Inborn errors of metabolism Overview of Inborn errors of metabolism
Overview of Inborn errors of metabolism subramaniam sethupathy
 
Inborn errors of metabolism
Inborn errors of metabolismInborn errors of metabolism
Inborn errors of metabolismTapeshwar Yadav
 
Inborn Errors of Metabolism
Inborn Errors of MetabolismInborn Errors of Metabolism
Inborn Errors of MetabolismDr. Om J Lakhani
 
TAY-SACHS DISEASE
TAY-SACHS DISEASETAY-SACHS DISEASE
TAY-SACHS DISEASESir. Stymass Kasty
 
Inborn errors of metabolism
Inborn errors of metabolism Inborn errors of metabolism
Inborn errors of metabolism Aseem Jain
 
Screening for Inborn Errors of metabolism
Screening for Inborn Errors of metabolism Screening for Inborn Errors of metabolism
Screening for Inborn Errors of metabolism Karthikeyan Pethusamy
 
approach to Inborn Errors of Metabolism in neonates
approach to Inborn Errors of Metabolism in neonatesapproach to Inborn Errors of Metabolism in neonates
approach to Inborn Errors of Metabolism in neonatesGokul Das
 
Inborn errors of metabolism
Inborn errors of metabolismInborn errors of metabolism
Inborn errors of metabolismSayan Misra
 
Inborn errors of metabolism
Inborn errors of metabolismInborn errors of metabolism
Inborn errors of metabolismSoumya Ranjan Parida
 
Metabolic inborn errors
Metabolic inborn errorsMetabolic inborn errors
Metabolic inborn errorsNgk Sharma
 
approach to inborn error of metabolism dr.mounika
approach to inborn error of metabolism dr.mounikaapproach to inborn error of metabolism dr.mounika
approach to inborn error of metabolism dr.mounikaDr Praman Kushwah
 
CONGENITAL ADRENAL HYPERPLASIA (CAH)- ADRENOMEHGALY
CONGENITAL ADRENAL HYPERPLASIA (CAH)- ADRENOMEHGALYCONGENITAL ADRENAL HYPERPLASIA (CAH)- ADRENOMEHGALY
CONGENITAL ADRENAL HYPERPLASIA (CAH)- ADRENOMEHGALYalok hridaya
 
Presentation on Inborn errors of metabolism
Presentation on Inborn errors of metabolismPresentation on Inborn errors of metabolism
Presentation on Inborn errors of metabolismnutritionistrepublic
 
Galactosemia
GalactosemiaGalactosemia
GalactosemiaHina Rodge
 
G6PD Deficiency
G6PD DeficiencyG6PD Deficiency
G6PD DeficiencyM S
 
phenylketonuria
phenylketonuriaphenylketonuria
phenylketonuriatbilisi state medical university
 
Inborn error of metabolism ( Prenatal & Newborn Screening )
Inborn error of metabolism ( Prenatal & Newborn Screening )Inborn error of metabolism ( Prenatal & Newborn Screening )
Inborn error of metabolism ( Prenatal & Newborn Screening )Dr.Debkumar Ray
 
Inborn error of metabolism ppt
Inborn error of metabolism pptInborn error of metabolism ppt
Inborn error of metabolism pptTaibaNaushad
 
Galactosemia ppt
Galactosemia pptGalactosemia ppt
Galactosemia pptv gokulabalaji
 
Maple syrup urine disease (msud)
Maple syrup urine disease (msud)Maple syrup urine disease (msud)
Maple syrup urine disease (msud)Marudhar Kesari Jain College for Women Vaniyambadi - 635 751, Tamil Nadu, INDIA.
 
Homocystinuria
HomocystinuriaHomocystinuria
HomocystinuriaRakesh Kumar
 
Thalassemia alpha and beta
Thalassemia alpha and beta Thalassemia alpha and beta
Thalassemia alpha and beta Hamza Shiekh
 
Aminoaciduria and organic aciduria in neurology
Aminoaciduria and organic aciduria in neurologyAminoaciduria and organic aciduria in neurology
Aminoaciduria and organic aciduria in neurologyKoushik Mukherjee
 
Inborn error of metabolism
Inborn error of metabolismInborn error of metabolism
Inborn error of metabolismuniversity of mysore
 
Lesson 7.1 inborn errors of metabolism
Lesson 7.1 inborn errors of metabolism Lesson 7.1 inborn errors of metabolism
Lesson 7.1 inborn errors of metabolism princesa2000
 
Inborn errors of metabolism
Inborn errors of metabolismInborn errors of metabolism
Inborn errors of metabolismMohammed Ellulu
 
Inbornerrorsofmet
InbornerrorsofmetInbornerrorsofmet
InbornerrorsofmetRajkumar Shankar
 

Mais conteúdo relacionado

Mais procurados

Screening for Inborn Errors of metabolism
Screening for Inborn Errors of metabolism Screening for Inborn Errors of metabolism
Screening for Inborn Errors of metabolism Karthikeyan Pethusamy
 
approach to Inborn Errors of Metabolism in neonates
approach to Inborn Errors of Metabolism in neonatesapproach to Inborn Errors of Metabolism in neonates
approach to Inborn Errors of Metabolism in neonatesGokul Das
 
Inborn errors of metabolism
Inborn errors of metabolismInborn errors of metabolism
Inborn errors of metabolismSayan Misra
 
Metabolic inborn errors
Metabolic inborn errorsMetabolic inborn errors
Metabolic inborn errorsNgk Sharma
 
approach to inborn error of metabolism dr.mounika
approach to inborn error of metabolism dr.mounikaapproach to inborn error of metabolism dr.mounika
approach to inborn error of metabolism dr.mounikaDr Praman Kushwah
 
CONGENITAL ADRENAL HYPERPLASIA (CAH)- ADRENOMEHGALY
CONGENITAL ADRENAL HYPERPLASIA (CAH)- ADRENOMEHGALYCONGENITAL ADRENAL HYPERPLASIA (CAH)- ADRENOMEHGALY
CONGENITAL ADRENAL HYPERPLASIA (CAH)- ADRENOMEHGALYalok hridaya
 
Presentation on Inborn errors of metabolism
Presentation on Inborn errors of metabolismPresentation on Inborn errors of metabolism
Presentation on Inborn errors of metabolismnutritionistrepublic
 
G6PD Deficiency
G6PD DeficiencyG6PD Deficiency
G6PD DeficiencyM S
 
Inborn error of metabolism ( Prenatal & Newborn Screening )
Inborn error of metabolism ( Prenatal & Newborn Screening )Inborn error of metabolism ( Prenatal & Newborn Screening )
Inborn error of metabolism ( Prenatal & Newborn Screening )Dr.Debkumar Ray
 
Inborn error of metabolism ppt
Inborn error of metabolism pptInborn error of metabolism ppt
Inborn error of metabolism pptTaibaNaushad
 
Thalassemia alpha and beta
Thalassemia alpha and beta Thalassemia alpha and beta
Thalassemia alpha and beta Hamza Shiekh
 
Aminoaciduria and organic aciduria in neurology
Aminoaciduria and organic aciduria in neurologyAminoaciduria and organic aciduria in neurology
Aminoaciduria and organic aciduria in neurologyKoushik Mukherjee
 
Lesson 7.1 inborn errors of metabolism
Lesson 7.1 inborn errors of metabolism Lesson 7.1 inborn errors of metabolism
Lesson 7.1 inborn errors of metabolism princesa2000
 

Mais procurados (20)

Screening for Inborn Errors of metabolism
Screening for Inborn Errors of metabolism Screening for Inborn Errors of metabolism
Screening for Inborn Errors of metabolism
 
approach to Inborn Errors of Metabolism in neonates
approach to Inborn Errors of Metabolism in neonatesapproach to Inborn Errors of Metabolism in neonates
approach to Inborn Errors of Metabolism in neonates
 
Inborn errors of metabolism
Inborn errors of metabolismInborn errors of metabolism
Inborn errors of metabolism
 
Inborn errors of metabolism
Inborn errors of metabolismInborn errors of metabolism
Inborn errors of metabolism
 
Metabolic inborn errors
Metabolic inborn errorsMetabolic inborn errors
Metabolic inborn errors
 
approach to inborn error of metabolism dr.mounika
approach to inborn error of metabolism dr.mounikaapproach to inborn error of metabolism dr.mounika
approach to inborn error of metabolism dr.mounika
 
CONGENITAL ADRENAL HYPERPLASIA (CAH)- ADRENOMEHGALY
CONGENITAL ADRENAL HYPERPLASIA (CAH)- ADRENOMEHGALYCONGENITAL ADRENAL HYPERPLASIA (CAH)- ADRENOMEHGALY
CONGENITAL ADRENAL HYPERPLASIA (CAH)- ADRENOMEHGALY
 
Presentation on Inborn errors of metabolism
Presentation on Inborn errors of metabolismPresentation on Inborn errors of metabolism
Presentation on Inborn errors of metabolism
 
Galactosemia
GalactosemiaGalactosemia
Galactosemia
 
G6PD Deficiency
G6PD DeficiencyG6PD Deficiency
G6PD Deficiency
 
phenylketonuria
phenylketonuriaphenylketonuria
phenylketonuria
 
Inborn error of metabolism ( Prenatal & Newborn Screening )
Inborn error of metabolism ( Prenatal & Newborn Screening )Inborn error of metabolism ( Prenatal & Newborn Screening )
Inborn error of metabolism ( Prenatal & Newborn Screening )
 
Inborn error of metabolism ppt
Inborn error of metabolism pptInborn error of metabolism ppt
Inborn error of metabolism ppt
 
Galactosemia ppt
Galactosemia pptGalactosemia ppt
Galactosemia ppt
 
Maple syrup urine disease (msud)
Maple syrup urine disease (msud)Maple syrup urine disease (msud)
Maple syrup urine disease (msud)
 
Homocystinuria
HomocystinuriaHomocystinuria
Homocystinuria
 
Thalassemia alpha and beta
Thalassemia alpha and beta Thalassemia alpha and beta
Thalassemia alpha and beta
 
Aminoaciduria and organic aciduria in neurology
Aminoaciduria and organic aciduria in neurologyAminoaciduria and organic aciduria in neurology
Aminoaciduria and organic aciduria in neurology
 
Inborn error of metabolism
Inborn error of metabolismInborn error of metabolism
Inborn error of metabolism
 
Lesson 7.1 inborn errors of metabolism
Lesson 7.1 inborn errors of metabolism Lesson 7.1 inborn errors of metabolism
Lesson 7.1 inborn errors of metabolism
 

Destaque

Inborn errors of metabolism
Inborn errors of metabolismInborn errors of metabolism
Inborn errors of metabolismMohammed Ellulu
 
Inborn error of metabolism
Inborn error of metabolismInborn error of metabolism
Inborn error of metabolismhodmedicine
 
Chemistry of amino acids
Chemistry of amino acidsChemistry of amino acids
Chemistry of amino acidsNamrata Chhabra
 
Glycolysis- An over view
Glycolysis- An over viewGlycolysis- An over view
Glycolysis- An over viewNamrata Chhabra
 
Glycogen metabolism- revision
Glycogen metabolism- revisionGlycogen metabolism- revision
Glycogen metabolism- revisionNamrata Chhabra
 
Urea cycle and its disorders
Urea cycle and its disordersUrea cycle and its disorders
Urea cycle and its disordersranjani n
 
IEM Labs - Go Global. Easier. Faster.
IEM Labs - Go Global. Easier. Faster.IEM Labs - Go Global. Easier. Faster.
IEM Labs - Go Global. Easier. Faster.IEMLabs
 
Acute and chronic hyperammonemia modulate antioxidant
Acute and chronic hyperammonemia modulate antioxidantAcute and chronic hyperammonemia modulate antioxidant
Acute and chronic hyperammonemia modulate antioxidantrkkoiri
 
Hyperamonimea
HyperamonimeaHyperamonimea
HyperamonimeaRebin Ali
 
iap-ahmedabad-inborn error of metabolism
iap-ahmedabad-inborn error of metabolismiap-ahmedabad-inborn error of metabolism
iap-ahmedabad-inborn error of metabolismNilu Panch
 
MATABOLISM OF CALCIUM & PHOSPHOROUS
MATABOLISM OF CALCIUM & PHOSPHOROUSMATABOLISM OF CALCIUM & PHOSPHOROUS
MATABOLISM OF CALCIUM & PHOSPHOROUSYESANNA
 
Enzyme Kinetics: Behavior and Analysis of Rapid Equilibrium and Steady-State ...
Enzyme Kinetics: Behavior and Analysis of Rapid Equilibrium and Steady-State ...Enzyme Kinetics: Behavior and Analysis of Rapid Equilibrium and Steady-State ...
Enzyme Kinetics: Behavior and Analysis of Rapid Equilibrium and Steady-State ...um1222
 
Clinical uses of enzymes, diagnostic importance of enzymes
Clinical uses of enzymes, diagnostic importance of enzymesClinical uses of enzymes, diagnostic importance of enzymes
Clinical uses of enzymes, diagnostic importance of enzymesmuti ullah
 
Investigation of jaundice
Investigation of jaundiceInvestigation of jaundice
Investigation of jaundicePrabhat Yadav
 
Passive Transport Notes
Passive Transport NotesPassive Transport Notes
Passive Transport Notesericchapman81
 
Clinical Study for CholesLo
Clinical Study for CholesLoClinical Study for CholesLo
Clinical Study for CholesLoCholesLo
 

Destaque (20)

Inborn errors of metabolism
Inborn errors of metabolismInborn errors of metabolism
Inborn errors of metabolism
 
Inbornerrorsofmet
InbornerrorsofmetInbornerrorsofmet
Inbornerrorsofmet
 
Inborn error of metabolism
Inborn error of metabolismInborn error of metabolism
Inborn error of metabolism
 
Chemistry of amino acids
Chemistry of amino acidsChemistry of amino acids
Chemistry of amino acids
 
Plasma proteins
Plasma proteinsPlasma proteins
Plasma proteins
 
Glycolysis- An over view
Glycolysis- An over viewGlycolysis- An over view
Glycolysis- An over view
 
Glycogen metabolism- revision
Glycogen metabolism- revisionGlycogen metabolism- revision
Glycogen metabolism- revision
 
Urea cycle and its disorders
Urea cycle and its disordersUrea cycle and its disorders
Urea cycle and its disorders
 
IEM Labs - Go Global. Easier. Faster.
IEM Labs - Go Global. Easier. Faster.IEM Labs - Go Global. Easier. Faster.
IEM Labs - Go Global. Easier. Faster.
 
Acute and chronic hyperammonemia modulate antioxidant
Acute and chronic hyperammonemia modulate antioxidantAcute and chronic hyperammonemia modulate antioxidant
Acute and chronic hyperammonemia modulate antioxidant
 
Hyperamonimea
HyperamonimeaHyperamonimea
Hyperamonimea
 
iap-ahmedabad-inborn error of metabolism
iap-ahmedabad-inborn error of metabolismiap-ahmedabad-inborn error of metabolism
iap-ahmedabad-inborn error of metabolism
 
MATABOLISM OF CALCIUM & PHOSPHOROUS
MATABOLISM OF CALCIUM & PHOSPHOROUSMATABOLISM OF CALCIUM & PHOSPHOROUS
MATABOLISM OF CALCIUM & PHOSPHOROUS
 
Enzyme Kinetics: Behavior and Analysis of Rapid Equilibrium and Steady-State ...
Enzyme Kinetics: Behavior and Analysis of Rapid Equilibrium and Steady-State ...Enzyme Kinetics: Behavior and Analysis of Rapid Equilibrium and Steady-State ...
Enzyme Kinetics: Behavior and Analysis of Rapid Equilibrium and Steady-State ...
 
Clinical uses of enzymes, diagnostic importance of enzymes
Clinical uses of enzymes, diagnostic importance of enzymesClinical uses of enzymes, diagnostic importance of enzymes
Clinical uses of enzymes, diagnostic importance of enzymes
 
Investigation of jaundice
Investigation of jaundiceInvestigation of jaundice
Investigation of jaundice
 
Neurotransmitters
NeurotransmittersNeurotransmitters
Neurotransmitters
 
Passive transport
Passive transportPassive transport
Passive transport
 
Passive Transport Notes
Passive Transport NotesPassive Transport Notes
Passive Transport Notes
 
Clinical Study for CholesLo
Clinical Study for CholesLoClinical Study for CholesLo
Clinical Study for CholesLo
 

Semelhante a Inbornerrorsofmetabolism

Inborn_Errors_of_Metabolism.ppt for msc biochemistry
Inborn_Errors_of_Metabolism.ppt for msc biochemistryInborn_Errors_of_Metabolism.ppt for msc biochemistry
Inborn_Errors_of_Metabolism.ppt for msc biochemistryramdeepramdeep02
 
Neurometabolic Disorders
Neurometabolic DisordersNeurometabolic Disorders
Neurometabolic DisordersAmr Hassan
 
INBORN ERRORS OF METABOLISM(IEMs).pptx
INBORN ERRORS OF METABOLISM(IEMs).pptxINBORN ERRORS OF METABOLISM(IEMs).pptx
INBORN ERRORS OF METABOLISM(IEMs).pptxugonnanwoke
 
Antiepileptics
AntiepilepticsAntiepileptics
AntiepilepticsAmit Kumar
 
ENZYMES INHERITED ENZYMOPATHIES. APPLICATION OF ENZYME IN THE TREATMENT OF DI...
ENZYMES INHERITED ENZYMOPATHIES. APPLICATION OF ENZYME IN THE TREATMENT OF DI...ENZYMES INHERITED ENZYMOPATHIES. APPLICATION OF ENZYME IN THE TREATMENT OF DI...
ENZYMES INHERITED ENZYMOPATHIES. APPLICATION OF ENZYME IN THE TREATMENT OF DI...Dr. Hament Sharma
 
New born screening & inborn error of metabolism
New born screening & inborn error of metabolism New born screening & inborn error of metabolism
New born screening & inborn error of metabolism jamali gm
 
Urea cycle defects
Urea cycle defectsUrea cycle defects
Urea cycle defectsPediatrics
 
Inborn error of metabolism
Inborn error of metabolism Inborn error of metabolism
Inborn error of metabolism Vishakha Sharma
 
Metabolic Disorder Maple syrup urine disease by Dr Asad Abbasi.pptx
Metabolic Disorder Maple syrup urine disease by Dr Asad Abbasi.pptxMetabolic Disorder Maple syrup urine disease by Dr Asad Abbasi.pptx
Metabolic Disorder Maple syrup urine disease by Dr Asad Abbasi.pptxMuhammad Asad
 
Metabolic emergencies in the Newborn
Metabolic emergencies in the NewbornMetabolic emergencies in the Newborn
Metabolic emergencies in the NewbornAtit Ghoda
 
biological-fluids.and fluids on bodys cells
biological-fluids.and fluids on bodys cellsbiological-fluids.and fluids on bodys cells
biological-fluids.and fluids on bodys cellsRashadHamada
 
Neurological manifestation of porphyria
Neurological manifestation of porphyriaNeurological manifestation of porphyria
Neurological manifestation of porphyriaNeurologyKota
 
Proteins and-amino-acids-metabolism-disordes (biochemistry )
Proteins and-amino-acids-metabolism-disordes (biochemistry ) Proteins and-amino-acids-metabolism-disordes (biochemistry )
Proteins and-amino-acids-metabolism-disordes (biochemistry ) MaryamHesham Mahmoud
 
Inborn errors of metabolism
Inborn errors of metabolismInborn errors of metabolism
Inborn errors of metabolismDr. Arghya Deb
 

Semelhante a Inbornerrorsofmetabolism (20)

Inborn_Errors_of_Metabolism.ppt for msc biochemistry
Inborn_Errors_of_Metabolism.ppt for msc biochemistryInborn_Errors_of_Metabolism.ppt for msc biochemistry
Inborn_Errors_of_Metabolism.ppt for msc biochemistry
 
Iems
IemsIems
Iems
 
Inborn error approach.pptx
Inborn error approach.pptxInborn error approach.pptx
Inborn error approach.pptx
 
Neurometabolic Disorders
Neurometabolic DisordersNeurometabolic Disorders
Neurometabolic Disorders
 
INBORN ERRORS OF METABOLISM(IEMs).pptx
INBORN ERRORS OF METABOLISM(IEMs).pptxINBORN ERRORS OF METABOLISM(IEMs).pptx
INBORN ERRORS OF METABOLISM(IEMs).pptx
 
Antiepileptics
AntiepilepticsAntiepileptics
Antiepileptics
 
Pediatrics 5th year, 15th lecture/part one (Dr. Jamal)
Pediatrics 5th year, 15th lecture/part one (Dr. Jamal)Pediatrics 5th year, 15th lecture/part one (Dr. Jamal)
Pediatrics 5th year, 15th lecture/part one (Dr. Jamal)
 
ENZYMES INHERITED ENZYMOPATHIES. APPLICATION OF ENZYME IN THE TREATMENT OF DI...
ENZYMES INHERITED ENZYMOPATHIES. APPLICATION OF ENZYME IN THE TREATMENT OF DI...ENZYMES INHERITED ENZYMOPATHIES. APPLICATION OF ENZYME IN THE TREATMENT OF DI...
ENZYMES INHERITED ENZYMOPATHIES. APPLICATION OF ENZYME IN THE TREATMENT OF DI...
 
New born screening & inborn error of metabolism
New born screening & inborn error of metabolism New born screening & inborn error of metabolism
New born screening & inborn error of metabolism
 
hyperemesis gravidarum
hyperemesis gravidarum hyperemesis gravidarum
hyperemesis gravidarum
 
Iem pro
Iem proIem pro
Iem pro
 
Urea cycle defects
Urea cycle defectsUrea cycle defects
Urea cycle defects
 
IEM2.pptx
IEM2.pptxIEM2.pptx
IEM2.pptx
 
Inborn error of metabolism
Inborn error of metabolism Inborn error of metabolism
Inborn error of metabolism
 
Metabolic Disorder Maple syrup urine disease by Dr Asad Abbasi.pptx
Metabolic Disorder Maple syrup urine disease by Dr Asad Abbasi.pptxMetabolic Disorder Maple syrup urine disease by Dr Asad Abbasi.pptx
Metabolic Disorder Maple syrup urine disease by Dr Asad Abbasi.pptx
 
Metabolic emergencies in the Newborn
Metabolic emergencies in the NewbornMetabolic emergencies in the Newborn
Metabolic emergencies in the Newborn
 
biological-fluids.and fluids on bodys cells
biological-fluids.and fluids on bodys cellsbiological-fluids.and fluids on bodys cells
biological-fluids.and fluids on bodys cells
 
Neurological manifestation of porphyria
Neurological manifestation of porphyriaNeurological manifestation of porphyria
Neurological manifestation of porphyria
 
Proteins and-amino-acids-metabolism-disordes (biochemistry )
Proteins and-amino-acids-metabolism-disordes (biochemistry ) Proteins and-amino-acids-metabolism-disordes (biochemistry )
Proteins and-amino-acids-metabolism-disordes (biochemistry )
 
Inborn errors of metabolism
Inborn errors of metabolismInborn errors of metabolism
Inborn errors of metabolism
 

Último

College Call Girls Vyasarpadi Whatsapp 7001305949 Independent Escort Service
College Call Girls Vyasarpadi Whatsapp 7001305949 Independent Escort ServiceCollege Call Girls Vyasarpadi Whatsapp 7001305949 Independent Escort Service
College Call Girls Vyasarpadi Whatsapp 7001305949 Independent Escort ServiceNehru place Escorts
 
Russian Call Girl Brookfield - 7001305949 Escorts Service 50% Off with Cash O...
Russian Call Girl Brookfield - 7001305949 Escorts Service 50% Off with Cash O...Russian Call Girl Brookfield - 7001305949 Escorts Service 50% Off with Cash O...
Russian Call Girl Brookfield - 7001305949 Escorts Service 50% Off with Cash O...narwatsonia7
 
Housewife Call Girls Bangalore - Call 7001305949 Rs-3500 with A/C Room Cash o...
Housewife Call Girls Bangalore - Call 7001305949 Rs-3500 with A/C Room Cash o...Housewife Call Girls Bangalore - Call 7001305949 Rs-3500 with A/C Room Cash o...
Housewife Call Girls Bangalore - Call 7001305949 Rs-3500 with A/C Room Cash o...narwatsonia7
 
See the 2,456 pharmacies on the National E-Pharmacy Platform
See the 2,456 pharmacies on the National E-Pharmacy PlatformSee the 2,456 pharmacies on the National E-Pharmacy Platform
See the 2,456 pharmacies on the National E-Pharmacy PlatformKweku Zurek
 
Call Girls Service Noida Maya 9711199012 Independent Escort Service Noida
Call Girls Service Noida Maya 9711199012 Independent Escort Service NoidaCall Girls Service Noida Maya 9711199012 Independent Escort Service Noida
Call Girls Service Noida Maya 9711199012 Independent Escort Service NoidaPooja Gupta
 
Pharmaceutical Marketting: Unit-5, Pricing
Pharmaceutical Marketting: Unit-5, PricingPharmaceutical Marketting: Unit-5, Pricing
Pharmaceutical Marketting: Unit-5, PricingArunagarwal328757
 
Call Girl Bangalore Nandini 7001305949 Independent Escort Service Bangalore
Call Girl Bangalore Nandini 7001305949 Independent Escort Service BangaloreCall Girl Bangalore Nandini 7001305949 Independent Escort Service Bangalore
Call Girl Bangalore Nandini 7001305949 Independent Escort Service Bangalorenarwatsonia7
 
97111 47426 Call Girls In Delhi MUNIRKAA
97111 47426 Call Girls In Delhi MUNIRKAA97111 47426 Call Girls In Delhi MUNIRKAA
97111 47426 Call Girls In Delhi MUNIRKAAjennyeacort
 
Call Girls Jayanagar Just Call 7001305949 Top Class Call Girl Service Available
Call Girls Jayanagar Just Call 7001305949 Top Class Call Girl Service AvailableCall Girls Jayanagar Just Call 7001305949 Top Class Call Girl Service Available
Call Girls Jayanagar Just Call 7001305949 Top Class Call Girl Service Availablenarwatsonia7
 
Low Rate Call Girls Mumbai Suman 9910780858 Independent Escort Service Mumbai
Low Rate Call Girls Mumbai Suman 9910780858 Independent Escort Service MumbaiLow Rate Call Girls Mumbai Suman 9910780858 Independent Escort Service Mumbai
Low Rate Call Girls Mumbai Suman 9910780858 Independent Escort Service Mumbaisonalikaur4
 
Book Call Girls in Yelahanka - For 7001305949 Cheap & Best with original Photos
Book Call Girls in Yelahanka - For 7001305949 Cheap & Best with original PhotosBook Call Girls in Yelahanka - For 7001305949 Cheap & Best with original Photos
Book Call Girls in Yelahanka - For 7001305949 Cheap & Best with original Photosnarwatsonia7
 
Hematology and Immunology - Leukocytes Functions
Hematology and Immunology - Leukocytes FunctionsHematology and Immunology - Leukocytes Functions
Hematology and Immunology - Leukocytes FunctionsMedicoseAcademics
 
Housewife Call Girls Hsr Layout - Call 7001305949 Rs-3500 with A/C Room Cash ...
Housewife Call Girls Hsr Layout - Call 7001305949 Rs-3500 with A/C Room Cash ...Housewife Call Girls Hsr Layout - Call 7001305949 Rs-3500 with A/C Room Cash ...
Housewife Call Girls Hsr Layout - Call 7001305949 Rs-3500 with A/C Room Cash ...narwatsonia7
 
Glomerular Filtration rate and its determinants.pptx
Glomerular Filtration rate and its determinants.pptxGlomerular Filtration rate and its determinants.pptx
Glomerular Filtration rate and its determinants.pptxDr.Nusrat Tariq
 
Call Girls Service Nandiambakkam | 7001305949 At Low Cost Cash Payment Booking
Call Girls Service Nandiambakkam | 7001305949 At Low Cost Cash Payment BookingCall Girls Service Nandiambakkam | 7001305949 At Low Cost Cash Payment Booking
Call Girls Service Nandiambakkam | 7001305949 At Low Cost Cash Payment BookingNehru place Escorts
 
Kolkata Call Girls Services 9907093804 @24x7 High Class Babes Here Call Now
Kolkata Call Girls Services 9907093804 @24x7 High Class Babes Here Call NowKolkata Call Girls Services 9907093804 @24x7 High Class Babes Here Call Now
Kolkata Call Girls Services 9907093804 @24x7 High Class Babes Here Call NowNehru place Escorts
 
Call Girls Service in Bommanahalli - 7001305949 with real photos and phone nu...
Call Girls Service in Bommanahalli - 7001305949 with real photos and phone nu...Call Girls Service in Bommanahalli - 7001305949 with real photos and phone nu...
Call Girls Service in Bommanahalli - 7001305949 with real photos and phone nu...narwatsonia7
 
Mumbai Call Girls Service 9910780858 Real Russian Girls Looking Models
Mumbai Call Girls Service 9910780858 Real Russian Girls Looking ModelsMumbai Call Girls Service 9910780858 Real Russian Girls Looking Models
Mumbai Call Girls Service 9910780858 Real Russian Girls Looking Modelssonalikaur4
 
High Profile Call Girls Jaipur Vani 8445551418 Independent Escort Service Jaipur
High Profile Call Girls Jaipur Vani 8445551418 Independent Escort Service JaipurHigh Profile Call Girls Jaipur Vani 8445551418 Independent Escort Service Jaipur
High Profile Call Girls Jaipur Vani 8445551418 Independent Escort Service Jaipurparulsinha
 
Call Girls Hosur Just Call 7001305949 Top Class Call Girl Service Available
Call Girls Hosur Just Call 7001305949 Top Class Call Girl Service AvailableCall Girls Hosur Just Call 7001305949 Top Class Call Girl Service Available
Call Girls Hosur Just Call 7001305949 Top Class Call Girl Service Availablenarwatsonia7
 

Último (20)

College Call Girls Vyasarpadi Whatsapp 7001305949 Independent Escort Service
College Call Girls Vyasarpadi Whatsapp 7001305949 Independent Escort ServiceCollege Call Girls Vyasarpadi Whatsapp 7001305949 Independent Escort Service
College Call Girls Vyasarpadi Whatsapp 7001305949 Independent Escort Service
 
Russian Call Girl Brookfield - 7001305949 Escorts Service 50% Off with Cash O...
Russian Call Girl Brookfield - 7001305949 Escorts Service 50% Off with Cash O...Russian Call Girl Brookfield - 7001305949 Escorts Service 50% Off with Cash O...
Russian Call Girl Brookfield - 7001305949 Escorts Service 50% Off with Cash O...
 
Housewife Call Girls Bangalore - Call 7001305949 Rs-3500 with A/C Room Cash o...
Housewife Call Girls Bangalore - Call 7001305949 Rs-3500 with A/C Room Cash o...Housewife Call Girls Bangalore - Call 7001305949 Rs-3500 with A/C Room Cash o...
Housewife Call Girls Bangalore - Call 7001305949 Rs-3500 with A/C Room Cash o...
 
See the 2,456 pharmacies on the National E-Pharmacy Platform
See the 2,456 pharmacies on the National E-Pharmacy PlatformSee the 2,456 pharmacies on the National E-Pharmacy Platform
See the 2,456 pharmacies on the National E-Pharmacy Platform
 
Call Girls Service Noida Maya 9711199012 Independent Escort Service Noida
Call Girls Service Noida Maya 9711199012 Independent Escort Service NoidaCall Girls Service Noida Maya 9711199012 Independent Escort Service Noida
Call Girls Service Noida Maya 9711199012 Independent Escort Service Noida
 
Pharmaceutical Marketting: Unit-5, Pricing
Pharmaceutical Marketting: Unit-5, PricingPharmaceutical Marketting: Unit-5, Pricing
Pharmaceutical Marketting: Unit-5, Pricing
 
Call Girl Bangalore Nandini 7001305949 Independent Escort Service Bangalore
Call Girl Bangalore Nandini 7001305949 Independent Escort Service BangaloreCall Girl Bangalore Nandini 7001305949 Independent Escort Service Bangalore
Call Girl Bangalore Nandini 7001305949 Independent Escort Service Bangalore
 
97111 47426 Call Girls In Delhi MUNIRKAA
97111 47426 Call Girls In Delhi MUNIRKAA97111 47426 Call Girls In Delhi MUNIRKAA
97111 47426 Call Girls In Delhi MUNIRKAA
 
Call Girls Jayanagar Just Call 7001305949 Top Class Call Girl Service Available
Call Girls Jayanagar Just Call 7001305949 Top Class Call Girl Service AvailableCall Girls Jayanagar Just Call 7001305949 Top Class Call Girl Service Available
Call Girls Jayanagar Just Call 7001305949 Top Class Call Girl Service Available
 
Low Rate Call Girls Mumbai Suman 9910780858 Independent Escort Service Mumbai
Low Rate Call Girls Mumbai Suman 9910780858 Independent Escort Service MumbaiLow Rate Call Girls Mumbai Suman 9910780858 Independent Escort Service Mumbai
Low Rate Call Girls Mumbai Suman 9910780858 Independent Escort Service Mumbai
 
Book Call Girls in Yelahanka - For 7001305949 Cheap & Best with original Photos
Book Call Girls in Yelahanka - For 7001305949 Cheap & Best with original PhotosBook Call Girls in Yelahanka - For 7001305949 Cheap & Best with original Photos
Book Call Girls in Yelahanka - For 7001305949 Cheap & Best with original Photos
 
Hematology and Immunology - Leukocytes Functions
Hematology and Immunology - Leukocytes FunctionsHematology and Immunology - Leukocytes Functions
Hematology and Immunology - Leukocytes Functions
 
Housewife Call Girls Hsr Layout - Call 7001305949 Rs-3500 with A/C Room Cash ...
Housewife Call Girls Hsr Layout - Call 7001305949 Rs-3500 with A/C Room Cash ...Housewife Call Girls Hsr Layout - Call 7001305949 Rs-3500 with A/C Room Cash ...
Housewife Call Girls Hsr Layout - Call 7001305949 Rs-3500 with A/C Room Cash ...
 
Glomerular Filtration rate and its determinants.pptx
Glomerular Filtration rate and its determinants.pptxGlomerular Filtration rate and its determinants.pptx
Glomerular Filtration rate and its determinants.pptx
 
Call Girls Service Nandiambakkam | 7001305949 At Low Cost Cash Payment Booking
Call Girls Service Nandiambakkam | 7001305949 At Low Cost Cash Payment BookingCall Girls Service Nandiambakkam | 7001305949 At Low Cost Cash Payment Booking
Call Girls Service Nandiambakkam | 7001305949 At Low Cost Cash Payment Booking
 
Kolkata Call Girls Services 9907093804 @24x7 High Class Babes Here Call Now
Kolkata Call Girls Services 9907093804 @24x7 High Class Babes Here Call NowKolkata Call Girls Services 9907093804 @24x7 High Class Babes Here Call Now
Kolkata Call Girls Services 9907093804 @24x7 High Class Babes Here Call Now
 
Call Girls Service in Bommanahalli - 7001305949 with real photos and phone nu...
Call Girls Service in Bommanahalli - 7001305949 with real photos and phone nu...Call Girls Service in Bommanahalli - 7001305949 with real photos and phone nu...
Call Girls Service in Bommanahalli - 7001305949 with real photos and phone nu...
 
Mumbai Call Girls Service 9910780858 Real Russian Girls Looking Models
Mumbai Call Girls Service 9910780858 Real Russian Girls Looking ModelsMumbai Call Girls Service 9910780858 Real Russian Girls Looking Models
Mumbai Call Girls Service 9910780858 Real Russian Girls Looking Models
 
High Profile Call Girls Jaipur Vani 8445551418 Independent Escort Service Jaipur
High Profile Call Girls Jaipur Vani 8445551418 Independent Escort Service JaipurHigh Profile Call Girls Jaipur Vani 8445551418 Independent Escort Service Jaipur
High Profile Call Girls Jaipur Vani 8445551418 Independent Escort Service Jaipur
 
Call Girls Hosur Just Call 7001305949 Top Class Call Girl Service Available
Call Girls Hosur Just Call 7001305949 Top Class Call Girl Service AvailableCall Girls Hosur Just Call 7001305949 Top Class Call Girl Service Available
Call Girls Hosur Just Call 7001305949 Top Class Call Girl Service Available
 

Inbornerrorsofmetabolism

  • 1. Inborn Errors of Metabolism Namrata Singh M.D
  • 2.
  • 3.
  • 4.
  • 5.
  • 6.
  • 7.
  • 8.
  • 9.
  • 10.
  • 11.
  • 12.
  • 13.
  • 14.
  • 15.
  • 16. HYPERAMMONEMIA RESP ALKALOSIS ACIDOSIS UREA CYCLE DEFECTS TRANSIENT HYPERAMMONEMIA OF NEWBORN ORGANIC ACIDEMIAS SE CITRULLINE—LOW– EARLY UREA CYCLE DEFECT SLIGHTLY ELEV– TRANSIENT HYPERAMMONEMIA OF NB MARKEDLY ELEV– CITRULLINEMIA & ARGINOSUCCINIC ACIDEMIA
  • 17.
  • 18.
  • 19.
  • 20.
  • 21.
  • 22.
  • 23.
  • 24.
  • 25.
  • 26.
  • 27.
  • 28.
  • 29.
  • 30.
  • 31.
  • 32.
  • 33. INITIAL FINDINGS ( POOR FEEDING , VOMITING , LETHARGY, CONVULSIONS ,COMA ) METABOLIC DISORDER INFECTION OBTAIN PL. NH3 HIGH NORMAL OBTAIN BLOOD Ph & CO2 OBTAIN BLOOD Ph & CO2 NORMAL ACIDOSIS NORMAL UREA CYCLE DEFECTS ORGANIC ACIDEMIAS AMINOACIDOPATHIES GALACTOSEMIA