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Article

Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency.

Orphanet journal of rare diseases - 23 Sept 2024

Klouwer Femke C C, Roosendaal Stefan D, Hollak Carla E M, Langeveld Mirjam, Poll-The Bwee Tien, Sorge Arlette J van, Wolf Nicole I, Knaap Marjo S van der, Engelen Marc

Abstract excerpt

BACKGROUND: Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal enzyme deficiency caused by biallelic variants in the AMACR gene. This deficiency leads to the accumulation of toxic bile acid intermediates (R)-trihydroxycholestenoic acid (THCA) and (R)-dihydroxycholestenoic acid (DHCA) and pristanic acid. With less than 20 patients described in literature, the phenotype of AMACR deficiency is...

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Identifiers

PMID: 39313810
DOI: 10.1186/s13023-024-03358-9
PMCID: PMC11421175

Genes

AMACR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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