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 language||English (US)|
|Number of pages||6|
|Publication status||Published - 1976|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health