Clin Chim Acta. 1976 Aug 2;70(3):399-406.

3-Hydroxy-3-methylglutaric aciduria, combined with 3-methylglutaconic aciduria.

Wysocki SJ, Wilkinson SP, Hähnel R, Wong CY, Panegyres PK.

Abstract

1. A baby with severe metabolic acidosis was found to excrete abnormal amounts of 3-methylcrotonic acid, 3-methylglutaconic acid and 3-hydroxy-3-methylglutaric acid in urine. 2. Several other abnormal constitutents appear to be products of side-reactions and include 3-hydroxy-3-methylbutyric acid and 3-methylglutaric acid. 3. The profile of acids in urine indicates a blockage in the sixth step of leucine catabolism, the cleavage of 3-hydroxy-3-methylglutaryl-CoA to acetoacetic acid and acetyl-CoA.

PMID:: 947633; [PubMed - indexed for MEDLINE]

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