Liver glycogenosis and cataracts in a mentally deficient child.

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Abstract
A mentally retarded girl is described, born of consanguineous parents, and showing congenital cataract and blindness. From the age of 8 months the patient had frequent attacks of hypoglycemia with marked acidosis. The clinical picture, and pathological and biochemical examination of a liver biopsy, led to a diagnosis of liver glycogenosis. The usual tests for carbohydrate metabolism and enzymes in leukocytes were normal. Enzyme investigations in a liver biopsy specimen showed only a low normal activity of liver phos-phorylase, other enzymes being normal.