Glycogen storage diseases
Last updated: Friday, 06, August, 2010
| Manifestations | Appropriate Tests |
|---|---|
Consult pathologist prior to investigation. If liver biopsy indicated: histology, glycogen assay, and appropriate specific enzyme assays (unfixed specimens must be submitted immediately to laboratory). | |
Asymptomatic hepatomegaly (type VI, type IX) | Liver biopsy - glycogen phosphorylase (type VI), phosphorylase kinase (type IX). |
Hepatomegaly with hypoglycaemia (type I, type III) | FBC, blood film. Liver biopsy - glucose-6-phosphatase (type I), debrancher enzyme (type III). |
Muscle pain, cramps, myoglobinuria, myopathy (McArdle's - type V, type VII) | Ischaemic exercise test; muscle biopsy - phosphorylase (type V), phosphofructokinase (type VII). |
Cardiac failure in infancy (Pompe - type II) | Muscle biopsy, fibroblast culture or lymphocytes - acid alpha glucosidase. |
Cirrhosis (type IV) | Liver biopsy - brancher enzyme. |