Infantile Metachromatic Leukodystrophy: Heterozygote Detection in Skin Fibroblasts and Possible Applications to Intrauterine Diagnosis

Michael M. Kaback, R. Rodney Howell

Research output: Contribution to journalArticle

54 Scopus citations

Abstract

A profound deficiency of arylsulfatase A activity (ARA) is detectable in skin fibroblasts developed from patients with infantile metachromatic leukodystrophy (about 3 to 4 per cent of normal). Fibroblasts were cultivated from skin biopsies of parents and siblings in four unrelated families in which a child with infantile metachromatic leukodystrophy had been documented. Fibroblast ARA activities of seven parents ranged from three to 15 times higher than those found in the affected patients, but were below the activity measured in control fibroblasts, confirming an autosomal recessive mode of inheritance for this disease. ARA specific activity in cultured cells from normal mid-trimester amniotic-fluid samples is significantly lower than that found in control skin fibroblast cultures. Hence values found in amniotic-fluid cell cultures do not necessarily identify the fetus with metachromatic leukodystrophy.

Original languageEnglish (US)
Pages (from-to)1336-1340
Number of pages5
JournalNew England Journal of Medicine
Volume282
Issue number24
DOIs
StatePublished - Jun 11 1970
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)

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