Diagnostic Dilemma

Glycogen Storage Disease

A 2-year-old boy presented with fever, vomiting, and yellow-colored urine for 3 days with altered sensorium 1 hour prior to admission. He had jaundice at 4 months of age and was admitted for 1 month and diagnosed with infective hepatitis. He was a full-term normal delivery with normal milestones and immunized till date. He was on a full diet though diet had decreased recently with illness. On examination, weight was 9 kg, height was 75.5 cms. He had jaundice; vital parameters were normal with firm hepatosplenomegaly and altered sensorium. There was no focal neurological deficit or meningeal signs. Investigations showed:
• Hemoglobin = 7.3 gm/dl
• WBC = 10,700/cumm
• Platelet = 2,51,000/cumm
• Bilirubin = 7.2 mg/dl (direct = 6.4 mg/dl)
• SGOT = 207 IU/L, SGPT = 150 IU/L
• Total proteins = 6.5 gm/dl, Albumin = 3.5 gm/dl
• Alkaline phosphatase = 543 IU/L. GGTP = 21 IU/L
• Prothrombin time = 14.8 seconds (prolonged) and Partial thromboplastin time = 54.8 seconds (prolonged).
• Serum ammonia = elevated
• Ultrasound abdomen = Massive hepatosplenomegaly
• HIV, HBsAg, Anti HCV = Negative
• S.ceruloplasmin = 0.168 OD (Normal = 0.2–0.5 OD)
• Liver biopsy = Glycogen storage disease (GSD)

He was treated for hepatic encephalopathy from which he recovered. To determine the type of GSD, a Glucagon challenge test was done. His fasting blood sugar was 30 mg% with acidosis and high LDH (653/IU/L) and elevated lactate 29.1 mg/dl). With glucagon, blood sugar remained 25 mg% and acidosis persisted and post feed after 2 hours, repeat Glucagon did not show any rise.

What is the type of GSD?
Expert Opinion :
Hypoglycemia is commonly seen in type 1 and types 3 GSD. Glucagon challenge test has been used to differentiate between the two. In type 1 GSD, abnormal lactate & lipid levels are seen. Administration of Glucagon or Epinephrine results in little or no rise in blood glucose. In type 3 GSD, hepatomegaly, hypoglycemia, hyperlipidemia, and growth retardation make it indistinguishable from type I disease. In Type III, however blood lactate and uric acid levels are normal. Glucagon administered 2 hours after a carbohydrate meal provokes a normal rise of blood Glucose but no change after an overnight fast. Thus this child has type 1 GSD.
Answer Discussion :
Tembo Malisela.T.
type 1
2 months ago
anulika chiemela
Type 1 GSD
2 months ago

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