A 6-month-old child presented with multiple episodes of seizures for past 2.5 months. The child was admitted to the ward. He had frequent episodes of hypoglycemia which precipitated the seizures. O/E, Hepatosplenomegaly Sho stature Thin extremities Doll like facies Lab findings revealed hyperuricemia, lactic acidosis, hyperlipidemias Which enzyme deficiency is responsible for this disorder?
This is a case of type I GSD/ Von-gierke disease Autosomal recessive Deficiency of Glucose-6-phosphatase in liver Presents:- Fasting hypoglycemia Lactic acidosis Hypoglycemic seizures Hepatosplenomegaly Lab findings: - Lactic acidosis Increased uric acid levels Hyperlipidemia
Glucose-6-phosphatase
Acid maltase
Phosphofructokinase
Debranching enzyme
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