LEUKOCYTE DEBRANCHING ENZYME IN GLYCOGEN STORAGE DISEASE

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Abstract
Debranching enzyme has been measured in leukocytes from control subjects and from a patient with Type III glycogenosis and her family members. The debranching activity was very low in leukocytes from the patient with the disease and was significantly reduced in both her parents and 1 sibling. In another sibling the level was normal. It is suggested that this assay may be a useful diagnostic test for this disease as well as a means for diagnosing the heterozygote state. The finding of the reduced levels of debranching enzyme in both parents is consistent with an autosomal recessive type inheritance. Leukocyte debranching enzyme was normal in patients with glycogen storage disease of Types I, VI (hepatic phosphorylase deficiency), and an unknown type.