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Article

3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.

Journal of inherited metabolic disease - 1 May 2012

Sass Jörn Oliver, Walter Melanie, Shield Julian P H, Atherton Andrea M, Garg Uttam, Scott David, Woods C Geoffrey, Smith Laurie D

Abstract excerpt

3-hydroxyisobutyric aciduria is an organic aciduria with a poorly understood biochemical basis. It has previously been assumed that deficiency of 3-hydroxyisobutyrate dehydrogenase (HIBADH) in the valine catabolic pathway is the underlying enzyme defect, but more recent evidence makes it likely that individuals with 3-hydroxyisobutyryic aciduria represent a heterogeneous group with different underlying...

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Identifiers

PMID: 21863277
DOI: 10.1007/s10545-011-9381-x

Genes

HIBADH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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