An infant has hepatosplenomegaly, hypoglycemia, hyperlipidemia, acidosis and normally structured glycogen deposition in the liver. What is the diagnosis –

Von-Gierke disease (Type I glycogenosis) It is an autosomal recessive disorder. It is due to absent or deficient activity of glucose-6-phosphatase in Liver, Kidney, Intestinal mucosa It can be divided into two subtypes - Type la → glucose - 6 - phosphatase is defective Type lb →  Translocase is defective (translocase transports glucose-6-phosphatase across the microsomal membrane). Clinical features Hypoglycemia Seizures Doll-like faces with fat cheeks  Thin extremities Short Stature Protrubent abdomen Hepatomegaly and renontegaly Normal spleen & heart size Biochemical findings Hypoglycemia Hyperuricemia Hyperlipidemia Lactic acidosis