Hurler's syndrome, an a-L-iduronidase deficiency

Reuben Matalon, Albert Dorfman

Research output: Contribution to journalArticle

74 Citations (Scopus)

Abstract

The activity of a-L-iduronidase was found to be deficient in extracts prepared from livers, cultured fibroblasts and urine of patients with Hurler's syndrome. Extracts from livers and fibroblasts of Hunter's and Sanfilippo's syndromes did not show such a deficiency. There was a diminution of activity in extracts of "I-cell" fibroblasts. a-L-Iduronidase is believed to be the underlying enzymic defect of Hurler's disease.

Original languageEnglish
Pages (from-to)959-964
Number of pages6
JournalBiochemical and Biophysical Research Communications
Volume47
Issue number4
DOIs
StatePublished - May 26 1972
Externally publishedYes

Fingerprint

Iduronidase
Mucopolysaccharidosis I
Fibroblasts
Liver Extracts
Mucopolysaccharidosis III
Mucopolysaccharidosis II
Cell Extracts
Urine
Defects

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

Cite this

Hurler's syndrome, an a-L-iduronidase deficiency. / Matalon, Reuben; Dorfman, Albert.

In: Biochemical and Biophysical Research Communications, Vol. 47, No. 4, 26.05.1972, p. 959-964.

Research output: Contribution to journalArticle

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