A new type of hyperlysinaemia due to a transport defect of lysine into mitochondria.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007930:Leucine / Q000097:blood; D008099:Liver / Q000201:enzymology; D008239:Lysine / Q000097:blood*; D008297:Male; D008928:Mitochondria / Q000378:metabolism*; D012443:Saccharopine Dehydrogenases / Q000378:metabolism
D012443:Saccharopine Dehydrogenases; C029496:saccharopine dehydrogenase (NADP+, lysine-forming); D007930:Leucine; D008239:Lysine