[Mucopolysaccharidosis I-S (Scheie's disease) (author's transl)].
Mucopolysaccharidosis I-S in two encygotic twin sisters. The disease is characterised by opacification of the cornea, hepatospenomegaly, carpal tunnel syndrome, flexion contractures of the fingers and toes, valvar heart disease, normal intelligence and essentially normal behaviour. The biochemical defect consists of deficiency of the lysosomal hydrolase alpha-L-iduronidase. Urinary dermatan-sulphate excretion is raised. The muscles are also involved:the electron microscopic revelas interstitial storage of glycosaminoglycan-like substance. There is no specific treatment.
D000328:Adult; D001706:Biopsy; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D009083:Mucopolysaccharidoses / Q000175:diagnosis*; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure
Mucopolysaccharidose I-S (Morbus Scheie).