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

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Abstract
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- anderythro-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.

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