title: [Mucopolysaccharidosis V (Ullrich-Scheie syndrome) (author's transl)].
abstract: Mucopolysaccharidosis V (Scheie's syndrome, MPS-IS) is a very rare, autosomal recessively inherited metabolic disease. The degradation of dermatan sulphate and heparan sulphate is disturbed due to alpha-L-iduronidase deficiency, leading to intracellular storage and excessive urinary secretion of these substances. The characteristic clinical features are contractures (claw-like flexion of the fingers), umbilical and inguinal herniae, corneal opacity, hepatomegaly, myocardiopathy and minor skeletal malformations. A patient with Scheie's syndrome is now reported for the first time in Austria; the results of the clinical, biochemical, chromosomal, dermatoglyphic and electron optical investigations are described and discussed.
mesh_terms: D000293:Adolescent; D006025:Glycosaminoglycans / Q000378:metabolism; D006801:Humans; D007068:Iduronidase / Q000378:metabolism; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis*; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D012867:Skin / Q000648:ultrastructure
chemical_list: D006025:Glycosaminoglycans; D007068:Iduronidase
vernacular_title: Mukopolysaccharidose V, Morbus ullrich-Scheie.