For medical students, especially for early clinical exposure , it will help preclinical medical students. It gives details of about seven case reports in carbohydrate metabolism. MBBS students can use the information for theory exam also.

1. Carbohydrate metabolism-
Case reports
DR.S.SETHUPATHY, M.D,PH.D

2. Case 1
 2 years old male child brought by parents with complaints of
yellowish discoloration of eyes intermittently from 3 months of
age, passing dark yellow urine with abdominal swelling.
 Given exclusive breastfeeding. Baby developed yellowish
discoloration of conjunctiva at 3 months of age.
 No clay colored stool or staining of diapers.
 Parents – Consanguineous marriage
 Had convulsion at 1 year of age.
 Delayed milestones

3.  Conscious, Mild pallor +HR-110/min Icterus +/-
 RR-32/min. No cyanosis, clubbing, koilonychia.
 A rounded doll's face, fatty cheeks, and a protuberant
abdomen
 No lymphadenopathy CVS- Normal R/S – Normal
 CNS – child was conscious, lethargic
 Hb – 10.5 g/dl TLC – 8,800 Platelets – 3.1 lakhs
 PT – 12.6
 Urine – Glucose negative, Ketones - positive

4.  Bilirubin - 5.42 (< 1mg/dl)
 AST – 933.4 (<40 U/l) ALT – 455.8 ( <40 U/l)
 ALP – 280 ( 130-260 U/l)
 GGT: 232.8 (Normal value : 5-16)
 Protein(T) – 6.5 Albumin – 3.7 Globulin – 2.8
 Uric acid – 8.3 (4–6mg/dl)
 Urea – 24 mg/dl Creatinine – 0.9 mg/dl
 Creatine kinase - 70 U/l ( 55-170 U/l)
 HBsAg – Negative

5. Cholesterol – 269 mg/dl ( 140-200)
TGL – 380 ( 50-150 mg/dl)
HDL – 34 ( 40-60 mg/dl)
LDL – 159 ( < 100 mg/dl)
Serum Lactate – 4.2 mmol/l (< 2 mol/l )
Fasting plasma glucose– 32 mg/dl. ( 60-
100 mg/dl)
Metabolic acidosis ( ph- 7.3, bicarbonate-
18 mmol/l, pCO2- 35 mm of Hg)

6.  Liver biopsy
 Glucose – 6-phosphatase activity assay-liver tissue
 Management
 Dietary therapy
 Fequent meals with high carbohydrate content, including
night feeds.
 Uncooked cornstarch, multivitamins, vitamin D, and
calcium supplements
 To limit the intake of sucrose, fructose, and galactose-
containing products.
 Regular follow-ups to monitor for long-term complications
 Iiver transplant

7. Diagnosis - Von Gierke’s disease
 Key features
 Fasting hypoglycemia
 Hepatomegaly
 Hyperlipidemia
 Hyperuricemia
 Ketoacidosis
 Doll like facies with chubby cheeks
 History of seizures ( hypoglycemic)
 Glucose 6-phosphatase deficiency
 Dietary therapy
 Liver transplant

8.  Autosomal recessive
 An annual incidence of about 1/100,000 live births
 Common Glycogen storage disease – Type 1 GSD – Von
Gierke’s
 Glucose 6-phosphatase deficiency
 Complications- Renal dysfunction , osteoporosis, and
gout

9. Case 2
A 22-year old student presented with complaints of
abdominal pain, bloating and diarrhea, after taking
cheese sandwich, and coffee with milk.
He had abdominal cramping soon after eating .
After approximately 1 hour of consuming milk, he also
developed excessive bloating and diarrhea. No fever
.No vomiting
He had similar complaints 7-8 days back also.

10.  No pallor, cyanosis, or edema.
 Blood pressure, 122/78 mm hg; pulse, 74/min,
regular; respiratory rate, 16/min.
 Auscultation of the chest revealed clear lung
fields, and normal cardiac findings.
 However, abdominal examination revealed
mild tenderness and generalized distension;
 bowel sounds were increased
( borborygmi).

11.  A fecal occult blood test and stool culture was
negative.
 Stool Benedict’s test – positive
 Stool acidity test - positive
 Complete blood count (CBC), erythrocyte
sedimentation rate (ESR), lipid profile, and liver
function tests and thyroid function tests, were
normal.

12. Diagnosis – Lactose intolerence
Lactase deficiency
( Congenital /Acquired)
Treatment
Lactase capsules can be given along with
the intake of milk products
Avoiding milk and dairy products

13. Case 3
 A 10-year-old boy presented with a history of lethargy, weight loss,
polydipsia, and polyuria for 2 weeks.
 His past medical history included nocturnal enuresis.
 Not on regular medications.
 His weight at presentation was 56.6 kg.
 Blood glucose was found to be raised - 770 mg/dl
 Venous blood gas revealed a pH of 7.380 (7.35–7.45), bicarbonate 21.3 (21–
28) mmol/L, and base deficit of 3.3 (2 to +3) mmol/L.
 HbA1c - 11%
 His urine ketones were found to be negative.
 urine glucose- ++++

14.  hemoglobin of 13 (11–14) g/dl, white blood cell count of 8100, and
platelet count of 2.7 lakhs.
 His serum sodium was 127 (136–145) mmol/L.
 His renal function tests, liver function tests, and thyroid profile were
normal.
 Positive islet cell antibodies
 Glutamic acid decarboxylase antibodies were higher than 2000 (<5) U/ml.
 Diagnosis
 A case of type 1 diabetes mellitus of recent onset
without Diabetic Ketoacidosis (DKA)
 A regime of subcutaneous insulin injections and
health education given.

15. Case 4
 A 5-year-old boy came with a chief complaint of pale
and fatigue.
 No family history of hemolytic anemia or parental
consanguinity.
 He appeared icteric and with severe anemia.
 He consumed fava beans twelve hours prior to the
onset of the symptoms
 HR- 110/min RR- 22/min
 Anemic, no cyanosis, no clubbing, no edema

16.  Hb 4.9 g/dl
 Total bilirubin 6.17 mg/dl, indirect bilirubin 5.49 mg/dl
 AST – 34 u/l, ALT- 27 U/l, ALP – 74 U/l
 Serum LDH - 742 U/l ( child- 60-170, adult – 140-280)
 Patient was transfused with Packed Red Cells
 Hb became 9.2 g/dl and total bilirubin 0.2 mg/dl.
 The blood smear result -Hemolytic anemia and bacterial
infection.
 The level of G6PD was - 5.1 U/gr Hb (10.0-14.2 U/g of Hb).

17. Diagnosis - G6PD deficiency
 G6PD – generates NADPH+H which helps in the
regeneration of reduced glutathione
 Glutathione protects RBC from oxidative stress
 G6PD deficiency results in RBC hemolysis due to
oxidative stress.
 Reduced protection against oxidative stress is due to
poor availability of reduced glutathione and triggers.

18. • Glucose-6-phosphate dehydrogenase (G6PD)
deficiency - the most common inherited disorder of
red blood cell metabolism
• It can cause hemolysis in the presence of triggers
• X-linked disorder affecting males and homozygous
females
• Incidence is higher in certain ethnic groups (eg, people
with African, Mediterranean, or Asian ancestry).
• Triggers - infections), drugs (eg, salicylates, sulfa drugs,
antimalarial drugs ), fava beans) cause oxidative stress.

19. • Investigations
• Peripheral smear and G6PD assay
• False negative G6PD assays are possible
during acute hemolysis- due to loss of
vulnerable G6PD deficient RBCs.
• Hence repeat testing after several weeks if
initial G6PD assay is negative.
• Treatment
• Avoidance of triggers
• Supportive therapy and blood transfusion

20. Case 5
 A 37-year-old woman came with complaints of
repeated nausea and vomiting after the administration
of fruits, sucrose, or fructose foods.
 A lifelong history of aversion to sweets was revealed.
 After being forced to eat fruits at the age of three, she
showed symptoms of nausea, vomiting, and visual
disturbance.
 In adulthood, after one sip of a beverage, nausea,
vomiting, and diarrhea occurred.
 Two hours later, she presented with a cold sweat and
faintness.

21.  She had no family history of liver or genetic disease
 Her height was 160 cm and her weight was 50.2 kg).
 Her physical examination was normal; no
hepatomegaly or splenomegaly was found.
 Laboratory findings
 White blood cell count was 8,460/mm3
 Hemoglobin 14.1 g/dL, platelet 261,000 /mm3,
 Calcium 8.8 mg/dL, phosphorus 3.5 mg/dL,
 Glucose 96 mg/dL, uric acid 3.0 mg/dL,

22.  Total cholesterol 180 mg/dL
 Total protein 7.5 g/dL, albumin 4.5 g/dL,
 Total bilirubin 0.7 mg/dL,
 Alkaline phosphatase 61 IU/L,
 Aspartate aminotransferase 19 IU/L,
 Alanine aminotransferase 16 IU/L,
 Blood urea nitrogen 12 mg/dL, creatinine 0.49
mg/dL,
 Prothrombin time 13 secs ( 10-14)
 Liver ultrasonography showed normal size, shape,
and echotexture without focal lesions.

23. Diagnosis – Hereditary fructose intolerance- HFI
 HFI was suspected, and gene analysis of aldolase B dobe
 HFI has an estimated incidence of 1:18,000 to 1:31,000.
 HFI is caused by a mutation in aldolase B, which results in the
accumulation of F 1-P.
 Symptoms usually manifest as nausea, vomiting, and aversion
to fructose-containing foods.
 Prolonged fructose ingestion may cause liver and renal failure.
 Physical examination might reveal hepatomegaly and jaundice

24. Depletion of phosphate due to trapping as
Fructose -1-Phosphate
 Depletion of phosphate due to the phosphorylation
of fructose.
 Hypophosphatemia, hyperuricemia,
hypermagnesemia, hypoglycemia, and acidosis after
fructose loading.
 Glycogenolysis , gluconeogenesis could not proceed
 Hence administration of glucagon does not correct
hypoglycemia

25. Case 6
 A known diabetic on insulin therapy who was
a shop keeper about 54 years old, got fainted
and became semiconscious.
 How will you proceed with the case?

26. Possibilities
 1. Hypoglycemia
 2. Severe hyperglycemia
 First we have to give the patient 10% Dextrose
intravenously.
Since hypoglycemia is more dangerous than
hyperglycemia

27.  Since the patient is on insulin, due to busy hours of
business in the morning, he would have forgotten
taking food after insulin injection . It would have
caused hypoglycemia.
or
 Due to uncontrolled diabetes mellitus , he would
have become semiconscious.
 Investigations
Plasma glucose – 37 mg/dl
Urine glucose – negative
Urine ketones – negative
Hypoglycemia

28.  Plasma glucose - 610 mg/dl
 Plasma ketones- 3.2 mmol/l ( less than 1.5
mmol/l, 1.6 – 3.0 –repeat test after 2 to 4
hours)
 Urine glucose - 4+
 Urine ketones - 4+
Uncontrolled diabetes mellitus

29. Case 7
 A 4-month-old, male infant was normally delivered at full
term (40 weeks of gestational age) as a first son to non-
consanguineous mother.
 He started breast-feeding on his third day of life.
 Two days later, he developed poor feeding and vomiting.
 Then he developed jaundice and jaundice progressed .
 Baby and mother were Rh positive only.
 Infant developed hepatosplenomegaly.

30.  Serum total and direct bilirubin - 18.5mg% and 11.7
mg%
 Plasma aspartate transaminase 397 U/L, (5−40 U/L)
 Alanine transaminase 109 U/L, ( 5−40 U/L)
 Alkaline phosphatase 740 U/L, (35−110 U/L)
 Plasma glucose –Fasting- 65 mg/dl
 Serum urea- 22 mg/dl
 Serum creatinine- 0.9 mg/dl
 Serum uric acid- 4.8 mg/dl

31. Metabolic screening
 Ferric chloride test- PKU- negative
 Dinitro phenyl hydrazine test- alpha keto acids- negative
 Cyanide nitroprusside test- negative ( Sulphur amino acids)
 Cetyl trimethyl ammonium bromide test –
for mucopolysaccharides-Negative
 Rothera’s test - negative
 Benedict test - ++ ( but no black precipitate)
 Urine glucose – negative ( Glucose strip)
 Aminoacids metabolic defects are ruled out.

32.  Stopping milk improved jaundice.
 Soya milk feeding improved the condition and he started taking feed
normally.
 In case of lactose intolerance, liver is not affected , no jaundice but
diarrhea will be there. So it is ruled out.
 No sugar was given . Hence hereditary fructose intolerance is ruled out.
 Probable diagnosis- Galactosemia
 Investigations
 Galactose -1-phosphate uridyl trasferase (GALT) assay in RBCs.
 Molecular analysis of GALT gene.
 The treatment of galactosemia
 The elimination of galactose and galactose-containing foods, that results in
in complete recovery

33.  Galactosemia - inherited metabolic disorder
 Deficiency of the enzyme galactose-1-
phosphate uridyltransferase
 Prevalence -1 in 30,000 and 1 in 60,000 births
 Clinical presentations characterized by severe
liver involvement
 It may progress to fatal liver failure
 Cataract may be present

34. Thank you