An infant has hepatorenomegaly, hypoglycemia, hyperlipidemia, acidosis and normal structured glycogen deposition in liver. What is the diagnosis - (AIIMS May 2013)
|B||Von Gierke's disease|
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).
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
o Hypoglycemia o Protrubent abdomen
o Hyperuricemia o Lactic acidosis