Plasma lysine concentration and availability of 2-ketoglutarate in liver mitochondria.
Defects of lysine metabolism are rare, but hyperlysinemia is a concomitant of many inborn errors of metabolism, including urea cycle abnormalities, pyruvate carboxylase deficiency and L-2-hydroxyglutaric aciduria. We have hypothesized that mitochondrial lysine degradation is regulated by bioavailability of 2-oxoglutarate in the same compartment, and our studies in physiologic fluid derived from patients with the above described disorders supports our hypothsis. Our data further suggest that patients with isolated L-2-hydroxyglutaric aciduria may have a defect in 2-ketoglutarate metabolism. The current report summarizes our studies.
Kamoun
P
P
Laboratoire de Biochimie médicale B, Hĵpital Necker Enfants Malades, Paris, France.
Richard
V
V
Rabier
D
D
Saudubray
J M
JM
D000409:Alanine / Q000097:blood; D001682:Biological Availability; D018698:Glutamic Acid / Q000097:blood; D005973:Glutamine / Q000097:blood; D006801:Humans; D007223:Infant; D007656:Ketoglutaric Acids / Q000378:metabolism* / Q000627:therapeutic use; D008239:Lysine / Q000097:blood*; D008930:Mitochondria, Liver / Q000378:metabolism*
D007656:Ketoglutaric Acids; D005973:Glutamine; D018698:Glutamic Acid; D008239:Lysine; D000409:Alanine