The clinical spectrum of alpha-L-iduronidase deficiency.
We present five patients with alpha-L-iduronidase deficiency who do not have the typical Hurler or Scheie phenotypes; they are compared to 28 similarly atypical cases from the literature. Phenotypic differences are pointed out and intrafamilial similarities stressed. Among the various possible explanations for this situation, the existence of genetic compounds seems acceptable for some of the cases, but others seem to be caused by different mutations. The elucidation of these alternative possibilities from recent biochemical research is discussed.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006026:Glycoside Hydrolases / Q000172:deficiency*; D006801:Humans; D007068:Iduronidase / Q000172:deficiency*; D007223:Infant; D008297:Male; D009083:Mucopolysaccharidoses / Q000235:genetics*; D008059:Mucopolysaccharidosis I / Q000201:enzymology / Q000235:genetics*; D010641:Phenotype
D006026:Glycoside Hydrolases; D007068:Iduronidase