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Late onset form of mucopolysaccharidosis type I: Clinical aspect and biochemical characterization of residual α‐ l ‐iduronidase activity
Author(s) -
Ullrich K.,
Gröbe H.,
Figura K.,
Hopwood J. J.,
Muller V.
Publication year - 1981
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02263645
Subject(s) - mucopolysaccharidosis type i , mucopolysaccharidosis i , hurler syndrome , mucopolysaccharidosis , medicine , mucopolysaccharidosis type ii , pathology , enzyme replacement therapy , disease
Clinical and roentgenographic features of two patients with the late onset form of mucopolysaccharidosis type I are presented. The residual α‐ L ‐iduronidase in cultured fibroblasts had an abnormal K m which differed from that found in the early onset (Hurler) form.