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Plasma Lysine Concentration and Availability of 2‐Ketoglutarate in Liver Mitochondria
Author(s) -
Kamoun P.,
Richard V.,
Rabier D.,
Saudubray J. M.
Publication year - 2002
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1015195009330
Subject(s) - urea cycle , lysine , metabolism , pyruvate carboxylase , biochemistry , chemistry , mitochondrion , endocrinology , medicine , biology , amino acid , enzyme , arginine
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.