Glycogen Storage Diseases (GSD): Clinical features and Complications

GSD	Eponym	Enzyme defect	Clinical features and complications
I	Von Gierke	Glucose-6-phosphatase deficiency	Childhood presentation, hypoglycaemia, hepatomegaly
II	Pompe	α-glucosidase (acid maltase) deficiency	Classical presentation in infancy, muscle weakness (may be severe)
III	Cori	Debrancher enzyme deficiency	Childhood presentation, hepatomegaly, mild hypoglycaemia
IV	Andersen	Brancher enzyme deficiency	Presentation in infancy, severe muscle weakness (may affect heart), cirrhosis
V	McArdle	Muscle glycogen phosphorylase deficiency	Exercise-induced fatigue and myalgia
VI	Hers	Liver phosphorylase deficiency	Mild hepatomegaly
VII	Tarui	Muscle phosphofructokinase deficiency	Exercise-induced fatigue and myalgia
VIII		Liver phosphorylase kinase deficiency	Very mild disease; hepatomegaly, growth retardation, elevated hepatic enzymes, hyperlipidaemia, fasting hyperketosis
IX		Liver glycogen phosphorylase kinase deficiency	Mild hepatomegaly. Inheritance can be autosomal or X-linked recessive
0		Hepatic glycogen synthase deficiency	Fasting hypoglycaemia, post-prandial hyperglycaemia

Referensi:
Davidson's Principles & Practice of Medicine 20th Edition (Churchill Livingstone) 2007

Tags: Lecture Notes