Premium
Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: Evidence of α‐oxidation of 4‐hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial β‐oxidation
Author(s) -
Brown G. K.,
Cromby C. H.,
Manning N. J.,
Pollitt R. J.
Publication year - 1987
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 - 10.1007/bf01799979
Subject(s) - pyruvate dehydrogenase complex , succinic acid , branched chain alpha keto acid dehydrogenase complex , biochemistry , chemistry , dehydrogenase , adipic acid , citric acid cycle , pyruvic acid , oxoglutarate dehydrogenase complex , enzyme , organic chemistry
Summary In addition to the previously reported abnormalities, urine extracts from three cases of succinic semialdehyde dehydrogenase deficiency have shown consistently increased amounts of 2,4‐dihydroxybutric acid, and its lactone, and 3‐hydroxypropionic acid, metabolites related to the α‐oxidation of 4‐hydroxybutyric acid. Threo‐ and erythro ‐4,5‐dihydroxyhexanoic acids have also been identified for the first time and probably arise from the reaction of succinic semialdehyde with an intermediate in the pyruvate dehydrogenase pathway. Adipic acid excretion is also consistently raised, suggesting secondary interference with mitochondrial β‐oxidation. The presence of these metabolites could be a source of diagnostic confusion.