SN7
SHORT NOTE
5M
Define Glycogen Storage Disease. Describe its clinical features, diagnosis, types and investigations.
Definition
- Glycogen storage diseases (GSDs) are inherited defects of glycogen metabolism.
- Type I (Von Gierke disease) is due to glucose-6-phosphatase deficiency (autosomal recessive), impairing the release of glucose from the liver.
Clinical Features
- Fasting (ketotic) hypoglycaemia and its symptoms.
- Massive hepatomegaly and a protuberant abdomen; 'doll-like' facies; growth failure.
- Biochemical hallmarks — lactic acidosis, hyperuricaemia and hyperlipidaemia.
Diagnosis & Management
- Suggestive biochemistry (fasting hypoglycaemia, lactic acidosis); confirmed by enzyme/genetic testing.
- Maintain normoglycaemia — frequent feeds and uncooked cornstarch, and avoid fasting (including overnight, via continuous feeds in infancy).
- Manage the metabolic complications (uric acid, lipids); dietary/metabolic follow-up.
Overview of GSD Types
- Type I (Von Gierke) — glucose-6-phosphatase; liver + hypoglycaemia.
- Type II (Pompe) — acid maltase; cardiomyopathy and hypotonia.
- Type III/IV/V (McArdle) — liver/muscle variants.
Clinical Recognition
- Hepatic GSDs → hepatomegaly + fasting hypoglycaemia; muscle GSDs → exercise intolerance/cramps.
- Pompe (type II) is distinct — a lysosomal disease with cardiomegaly and hypotonia in infancy.
Prognosis
With good metabolic control (avoiding hypoglycaemia), children with hepatic GSD grow and do well; long-term surveillance addresses complications such as hepatic adenomas and renal involvement in type I.
Doll-like facies with massive hepatomegaly and normal spleen.
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