Enzyme studies on white blood cells and their significance for genetics.

Abstract

The application of leukocyte enzyme assays to the diagnosis and study of genetics has been demonstrated in the following errors of metabolism: glycogen storage disease, familial paroxysmal rhabdomyolysis and galactosemia. Under such a programme the activity of the following enzymes is included: phosphorylase, phosphorylase kinase, glucose 6-phosphate dehydrogenase, amylo-1, 6-glucosidase and P-gal-uridyl-transferase. Leukocyte phosphorylase activity is significantly decreased in Hers disease (type VI glycogenosis). Amylo-1, 6-glucosidase is lacking in leukocytes of patients with limit dextrinosis, a defect inherited as an autosomal recessive trait. Similar inheritance exists in type IV glycogenosis. Type VIa glycogenosis shows X-chromosomal inheritance, patients being hemizygous deficient and mothers heterozygotes. G6PD has been demonstrated as significantly increased in two female children with Hers' glycogenosis (possibly VIb).