The iduronidase deficient mucopolysaccharidoses: clinical and roentgenographic features

R. E. Stevenson, R. R. Howell, V. McKusick, R. Suskind, J. W. Hanson, D. E. Elliott, E. F. Neufeld

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26 Scopus citations

Abstract

Hurler and Scheie syndromes, two of the six clinically distinct mucopolysaccharidoses, are deficient in the same lysosomal enzyme, α L iduronidase. A third group of iduronidase deficient patients can now be identified during the pediatric years using clinical and radiographic criteria. Based on inferential evidence for allelism between the Hurler and Scheie genes, the occurrence of genetic compounds which simultaneously carry both mutant alleles may be predicted to occur. This can be considered analogous to the structural gene mutations leading to hemoglobin SC disease. Four patients with phenotypes intermediate between Hurler and Scheie syndromes are felt to represent genetic compounds of this type. Both clinical and roentgenographic features are helpful in distinguishing these patients from those with Hurler syndrome or Scheie syndrome. Fibroblast correction characteristics identical to those of Hurler syndrome and Scheie syndrome and absence of consanguinity are additional features which favor classification as genetic compounds. The possibility of a third mutant allele at the Hurler Scheie locus or of extreme phenotypic variation are not considered likely alternative explanations. Depending on the frequency of the Scheie syndrome and the Hurler syndrome, genetic compounds may occur with an intermediate frequency or may be more common than either homozygous condition.

Original languageEnglish (US)
Pages (from-to)111-122
Number of pages12
JournalPediatrics
Volume57
Issue number1
StatePublished - 1976

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Stevenson, R. E., Howell, R. R., McKusick, V., Suskind, R., Hanson, J. W., Elliott, D. E., & Neufeld, E. F. (1976). The iduronidase deficient mucopolysaccharidoses: clinical and roentgenographic features. Pediatrics, 57(1), 111-122.