I-cell disease: Biochemical studies

Abstract

Six patients with I-cell disease (ICD) are studied. Multiple acid hydrolase deficiencies are demonstrated in cultured skin fibroblasts. These include b-galactosidase (2% of normal), b-glucosaminidase (8% of normal), b-glucuronidase (7% of normal), a- lactosidase (10% of normal), and arylsulfatase A (5% of normal). Acid hydrolases found not to be deficient include b-glucosidase and acid phosphatase. In brain and visceral organs, only b-galactosidase is deficient (27% of normal in brain; 11% of normal in liver). A nonspecific accumulation of lipids of all classes occurs in skin fibroblasts (2-3 times normal), but not in brain or visceral organs. No accumulation of acid mucopolysaccharides is demonstrated in skin fibroblasts or liver. I-cell disease may represent a unique opportunity for the study of control of intracellular levels of lysosomal enzymes. © 1972 International Pediatric Research Foundation, Inc.