Familial hyperlysinemia: Enzyme studies, diagnostic methods, comments on terminology

J. Dancis, J. Hutzler, R. P. Cox

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

Enzyme assays of skin fibroblasts from five children with familiar type lysinemia from unrelated families are added to the previous report of three children from two unrelated families. In all instances there was a deficiency in lysine-ketoglutarate reductase, saccharopine dehydrogenase, and saccharopine oxidoreductase activities. To complete the studies on the enzymes associated with familial hyperlysinemia, saccharopine oxidoreductase was partially purified from human liver and characterized. The activity did not separate from that of lysine-ketoglutarate reductase or saccharopine dehydrogenase. A simple screening test for familial hyperlysinemia is described based on the evolution of 14CO2 from lysine-14C by skin fibroblasts. The test differentiated, without overlap, seven patients with familial hyperlysinemia from control subjects. The relation of the two genetic entities involving lysine degradation, familial hyperlysinemia and saccharopinuria, is discussed. It is suggested that familial hyperlysinemia, type I, be applied to patients with major defects in lysine-ketoglutarate reductase and saccharopine dehydrogenase, and that familial hyperlysinemia, type II, to be used to designate patients in whom significant amounts of lysine-ketoglutarate reductase are retained. The nomenclature would be consistent with that of an analogous disease, orotic aciduria.

Original languageEnglish (US)
Pages (from-to)290-299
Number of pages10
JournalAmerican Journal of Human Genetics
Volume31
Issue number3
StatePublished - 1979

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'Familial hyperlysinemia: Enzyme studies, diagnostic methods, comments on terminology'. Together they form a unique fingerprint.

Cite this