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
Her's disease
Von Gierke's disease
Cor's disease
Anderson's disease