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