Type VI glycogen storage disease

Sewell AC (1986) Urinary oligosaccharide screening detects type VI glycogen storage disease. Clin Chem 32 392... 

Lederer B, Van Hoof F, Van den Berghe G, Hers HG (1975) Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen storage disease. A study of phosphorylase kinase deficiency. Biochem J 147 23-35... 

Type VI glycogen storage disease. See also glycogen storage diseases... 

The isoenzyme pattern of the phosphorylase in the white blood cells and cultured fibroblasts of a patient with Type VI glycogen-storage disease showed only two bands, instead of the three bands normally found. The liver-type phosphorylase was not produced by cultured fibroblasts. 

Several types of glycogen-storage disease are now known in most cases, the accumulation of glycogen can be correlated with a relative deficiency of either n-glucose 6-phosphatase or the debranching-enzyme system (Type I and III disease, respectively). In a very few cases, the enzymic defect is either in branching enzyme or in phosphorylase (Type IV or VI disease, respectively) see Table VII. In the Type II and V diseases, the enzyme deficiencies are different from the above, but have not yet been fully identified. 

There are multiple types of glycogen storage diseases, which can be classified in hepafic and myopalhic forms. Types I, in, IV, VI, and IX affect liver primarily. 

In the Type VI diseases, there appears to be abnormally low or complete absence of phosphorylase activity. In three cases (Type Via) examined by Hers, the activity of the liver phosphorylase was about 5 units, compared with values of 12-33 units for other cases of glycogen-storage disease, although the muscle phosphorylase activity was normal. 

Glycogenolytic Disorders Glycogen Storage Diseases Types VI and IX. 303... 

Glycogen storage disease type VI Hepatic phosphoiylase PYGL ... 

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