Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts

D. F. Farrell, A. K. Percy, M. M. Kaback, G. M. McKhann

Research output: Contribution to journalArticlepeer-review

Abstract

Cerebroside β galactosidase activity was measured from cultured skin fibroblasts derived from three families with globoid cell (Krabbe's) leukodystrophy. Affected infants and heterozygotes are clearly separable from each other as well as from controls on the basis of cerebroside β galactosidase activity. The cerebroside β galactosidase activity in cultured midtrimester amniotic fluid cells is identical to that of control fibroblasts, thereby providing for reliable antenatal diagnosis of globoid cell (Krabbe's) leukodystrophy.

Original languageEnglish (US)
Pages (from-to)604-609
Number of pages6
JournalAmerican journal of human genetics
Volume25
Issue number6
StatePublished - Dec 1 1973

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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