A 6-month-old child presented with multiple episodes of seizures over the past 2.5 months. The child was admitted to the ward and had frequent episodes of hypoglycemia, which precipitated the seizures. On examination, hepatosplenomegaly, short stature, thin extremities, and a doll-like facies were noted. Laboratory findings revealed hyperuricemia, lactic acidosis, and hyperlipidemia. Which enzyme deficiency is responsible for this disorder?
AGlucose-6-phosphatase
BAcid maltase
CPhosphofructokinase deficiency
DDebranching enzyme deficiency
EBranching enzyme
Enzyme deficient in Hers disease -
AMuscle phosphorylase
BLiver phosphorylase
CAcid maltase
DDebranching enzyme
Glycogen storage disorders are primarily classified under which type of disorders?
AEndocrine disorders
BMetabolic disorders
CGenetic disorders
DLysosomal storage disorders
+ 7 more in the PDF
Browse all chapters