NDLI: 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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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

Content Provider	Scilit
Author	Brown, G. K. Cromby, C. H. Manning, N. J. Pollitt, R. J.
Copyright Year	1987
Description	Journal: Journal of Inherited Metabolic Disease 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.
Ending Page	375
Starting Page	367
ISSN	00221295
e-ISSN	15732665
DOI	10.1007/bf01799979
Journal	Journal of Inherited Metabolic Disease
Issue Number	4
Volume Number	10
Language	English
Publisher	Wiley-Blackwell
Publisher Date	1987-04-01
Access Restriction	Open
Subject Keyword	Journal: Journal of Inherited Metabolic Disease Analytical Chemistry Organic Acid Metabolic Disease Pyruvate Dehydrogenase
Content Type	Text
Resource Type	Article
Subject	Physiology

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