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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
Liver phosphorylase kinase deficiency Very mild disease; hepatomegaly, growth retardation, elevated hepatic enzymes, hyperlipidaemia, fasting hyperketosis
Liver glycogen phosphorylase kinase deficiency Mild hepatomegaly. Inheritance can be autosomal or X-linked recessive
Hepatic glycogen synthase deficiency Fasting hypoglycaemia, post-prandial hyperglycaemia

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

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