3.  To recognize IEM in a neonate with non-
specific signs and symptoms
 To make use of simple lab tests in the
diagnosis of IEM
 To know the initial management of life
threatening conditions associated with
IEM

4.  Individually rare, collectively a
significant health problem
 Approx 1:5,000 live births.

7.  Disorders of metabolism:
 Amino acids
 Carbohydrates
 Fatty acid
 Lysosomal and peroxisomal function
 Mitochondrial
 Organic acids

8.  May be gradual
 May be sudden
 May be catastrophic

9.  Infectious disease
 Respiratory
 Cardiac
 GI
 Neurological

10.  Metabolic acidosis
 Hyperammonemia
 Hypoglycemia

11. Aminoacidopathies
or Galactosemia
Infection
Obtain plasma ammonia
Normal High anion Gap Normal anion gap
Acidosis
Urea Cycle defects Organic acidemias
Metabolic Disorder
High
Obtain blood pH and CO2 Obtain blood pH and CO2
Normal
Poor feeding Vomiting, dehydration, Tachypnea, seizures, Coma

12. Transient
hyperammonemia
of the newborn
No acidosis
Obtain plasma amino acids
Normal or low
Acidosis
CPS deficiency or
NAG synthetase
deficiency
Specific amino
acid elevation
Obtain urine orotic acid
No specific amino acid elevation
Obtain blood pH and CO2
Obtain plasma citrulline
Normal or
elevated
Low
OTC
deficiency
HHH
syndrome
Argininosuccinic
acidemia
ArgininemiaCitrullinemiaOrganic
acidemias
Obtain organic acids
High

13. Copyright ©1998 American Academy of Pediatrics

14.  Can be life
threatening event
requiring rapid
assessment and
management.
 ABC’s
 CBC BloodCx if
uncertain
 Coags- PT/PTT
 BSR,RFTs, Ca and LFTs
 LP- r/o Meningitis,
 ABG-acidosis
 NH4
 Lactate, Pyruvate
 , UA-ketones, urine
reducing substances,
 lactate

15.  Correct hypotension.
 NPO, reverse
catabolism with D5-
D10 1-1.5 x maint.
 Correct
hypoglycemia.
 Correct metabolic
acidosis.
 Lactulose; Dialysis, if
High/toxic NH4
› (nl is <35µmol/L)
 Search for and treat
precipitants; ie:
Infection, dehydratio
n.
 Sepsis + ABx if
uncertain.
 Pyridoxine for
neonatal sz. if AED
no-response
 .

16.  1. Determine if there is metabolic
acidosis
 2. Is anion gap >16?
 3. Is there hypoglycemia?
 4. Is there hyperammonemia?
› Within 24 HOL?
› After 24 HOL?

17.  No acidosis (respiratory alkalosis)
 No ketones (unlike organic acidemia)
 No hypoglycemia
 But with hyperammonemia

18.  Treatment:
 Hydration with D10 + electrolytes
 D/C all protein x 24 hours—calories from
CHO and fat
 Remove ammonia
 Na phenylacetate/Na benzoate
 Give arginine
 Peritoneal dialysis if above measure fail
 Protein restriction for life

19.  Prognosis: guarded
 Even with Treatment, many will die
 Definitive treatment: liver transplant

20.  Healthy NB rapidly ill,
› Ketoacidosis, poor feeding
 Vomiting, dehydration
 Hypotonia, lethargy
 Tachypnea, seizures
 Coma, unusual odors
Organic acidemia

21.  Labs:
 Urine organic acids
 Ketonuria (in the NB)- pathognomonic of
IEM
 Neutropenia, thrombocytopenia
 +/- hyperammonemia
 Abnormal acylcarnitine

22.  Treatment:
 Stabilize
 Get rid of organic acid intermediates,
and ammonia- dialysis
 Carnitine
 After stabilization, may resume oral feeds
 Consult dietitian, and metabolic
specialist

23.  **Autosomal recessive inheritance**
 Examples are MCAD, LCAD, VLCAD
 Defect in acyl-CoA Dehydrogenase important in
fasting state.
 KEY features:
 Acute attack of life-threatening coma with
Hypoglycemia
 Absence of urine ketones, and reducing substances,
 +/- mild acidosis, or hyperammonemia, elevated
LFTs, abnl coags. +/-Hepatomegaly-/+
 Dx with serum Acylcarnitine Profile or fibroblast enzyme
assay
 Treat ment: correct hypoglycemia with 10%D/W and
avoid fasting

24.  Metabolic acidosis + hyperammonemia
 Initial therapy- stabilize patient!
 Request for specific lab studies
 Consult metabolic specialist
 Long term treatment- based on specific
IEM