I-cell disease. Report of three cases.
Clinical, radiological, histochemical, ultrastructural, and biochemical studies were conducted on three cases of I-cell disease. I-cell disease can be readily distinguished from Hurler syndrome (mucopolysaccharidosis I) by the presence of hypertrophic gums, vacuolated lymphocytes in peripheral blood, and a normal level of urinary mucopolysaccharides. Accumulation of proteoglycans was more prominent in the inclusion bodies of I-cell chondrocytes in comparison to cultured fibroblasts, which contained a large amount of glycolipids and a small amount of proteoglycans. An autosomal recessive mode of inheritance was suggested in two of the cases.
D000015:Abnormalities, Multiple / Q000150:complications*; D002356:Cartilage / Q000473:pathology; D002675:Child, Preschool; D002809:Chondroitin Sulfates / Q000652:urine; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D005260:Female; D005347:Fibroblasts / Q000473:pathology / Q000648:ultrastructure; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D007223:Infant; D008064:Lipidoses / Q000150:complications / Q000473:pathology; D008214:Lymphocytes / Q000473:pathology; D008297:Male; D011596:Psychomotor Disorders / Q000150:complications; D000608:Renal Aminoacidurias; D013577:Syndrome
D002809:Chondroitin Sulfates