The iduronidase deficient mucopolysaccharidoses: clinical and roentgenographic features

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

Research output: Contribution to journalArticle

26 Citations (Scopus)

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
Pages (from-to)111-122
Number of pages12
JournalPediatrics
Volume57
Issue number1
StatePublished - Dec 1 1976
Externally publishedYes

Fingerprint

Iduronidase
Mucopolysaccharidoses
Mucopolysaccharidosis I
Hemoglobin SC Disease
Alleles
Consanguinity
Genes
Fibroblasts
Pediatrics
Phenotype

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Stevenson, R. E., Howell, 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.

The iduronidase deficient mucopolysaccharidoses : clinical and roentgenographic features. / Stevenson, R. E.; Howell, R.; McKusick, V.; Suskind, R.; Hanson, J. W.; Elliott, D. E.; Neufeld, E. F.

In: Pediatrics, Vol. 57, No. 1, 01.12.1976, p. 111-122.

Research output: Contribution to journalArticle

Stevenson, RE, Howell, R, McKusick, V, Suskind, R, Hanson, JW, Elliott, DE & Neufeld, EF 1976, 'The iduronidase deficient mucopolysaccharidoses: clinical and roentgenographic features', Pediatrics, vol. 57, no. 1, pp. 111-122.
Stevenson RE, Howell R, McKusick V, Suskind R, Hanson JW, Elliott DE et al. The iduronidase deficient mucopolysaccharidoses: clinical and roentgenographic features. Pediatrics. 1976 Dec 1;57(1):111-122.
Stevenson, R. E. ; Howell, R. ; McKusick, V. ; Suskind, R. ; Hanson, J. W. ; Elliott, D. E. ; Neufeld, E. F. / The iduronidase deficient mucopolysaccharidoses : clinical and roentgenographic features. In: Pediatrics. 1976 ; Vol. 57, No. 1. pp. 111-122.
@article{b3b9d4a2022d4362b723fc839d0b5158,
title = "The iduronidase deficient mucopolysaccharidoses: clinical and roentgenographic features",
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.",
author = "Stevenson, {R. E.} and R. Howell and V. McKusick and R. Suskind and Hanson, {J. W.} and Elliott, {D. E.} and Neufeld, {E. F.}",
year = "1976",
month = "12",
day = "1",
language = "English",
volume = "57",
pages = "111--122",
journal = "Pediatrics",
issn = "0031-4005",
publisher = "American Academy of Pediatrics",
number = "1",

}

TY - JOUR

T1 - The iduronidase deficient mucopolysaccharidoses

T2 - clinical and roentgenographic features

AU - Stevenson, R. E.

AU - Howell, R.

AU - McKusick, V.

AU - Suskind, R.

AU - Hanson, J. W.

AU - Elliott, D. E.

AU - Neufeld, E. F.

PY - 1976/12/1

Y1 - 1976/12/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0017228450&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0017228450&partnerID=8YFLogxK

M3 - Article

C2 - 813180

AN - SCOPUS:0017228450

VL - 57

SP - 111

EP - 122

JO - Pediatrics

JF - Pediatrics

SN - 0031-4005

IS - 1

ER -