Multiple enzyme defects in familial hyperlysinemia

J. Dancis, J. Hutzler, N. C. Woody, R. P. Cox

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26 Scopus citations

Abstract

Analysis of liver obtained at autopsy from a patient with familial hyperlysinemia revealed a severe deficiency in lysine ketoglutarate reductase, saccharopine dehydrogenase, and saccharopine oxidoreductase. The deficiencies were confirmed in skin fibroblasts from two siblings with the disease and a third patient from an unrelated family.

Original languageEnglish (US)
Pages (from-to)686-691
Number of pages6
JournalPediatric Research
Volume10
Issue number7
Publication statusPublished - 1976

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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Dancis, J., Hutzler, J., Woody, N. C., & Cox, R. P. (1976). Multiple enzyme defects in familial hyperlysinemia. Pediatric Research, 10(7), 686-691.