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Metabolic Diseases

4 out of 5

An infant has hepatorenomegaly, hypoglycemia, hyperlipidemia, acidosis and normal structured glycogen deposition in liver. What is the diagnosis - (AIIMS May 2013)

A Her's disease
B Von Gierke's disease

C Cori's disease
D Anderson's disease

E Pompe's disease

Ans. B

Von Gierke's disease

Von-Gierke disease (TypeI glycogenosis)

a. It is an autosomal recessive disorder.

b. it is due to absent or deficient activity of glucose-6-phosphatase in+Liver, Kidnell, Intestinal mucosa

c. It can be divided into two subtypes

i. Type Ia glucose - 6 - phosphatase is defective

ii. Type Ib Translocase is defective (translocase transports glucose-6-phosphatase across microsomal membrane).

Clinical features

o Hypoglycemia o Thin extremities o Hepatomegaly and renomegaly

o Seizures o Short stature of Normal spleen & heart size

o Doll like faces with fat cheeks o Protrubent abdomen

Biochemical findings

o Hypoglycemia o Protrubent abdomen

o Hyperuricemia o Lactic acidosis