An infant has hepatosplenomegaly, hypoglycemia, hyperlipidemia, acidosis and normally structured glycogen deposition in the liver. What is the diagnosis –
Correct Answer: Von Gierke's disease
Description: 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
Category:
Pediatrics
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