alpha-methylacyl-CoA racemase deficiency
Findings
No curated finding names alpha-methylacyl-CoA racemase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.
Definition from the Mondo Disease Ontology (MONDO:0013681), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Constriction of peripheral visual fieldHPOHP:0001133
- 1 of 1 reported patient
- DepressionHPOHP:0000716
- 1 of 1 reported patient
- Elevated circulating phytanic acid concentrationHPOHP:0010571
- 3 of 3 reported patients
- Focal-onset seizureHPOHP:0007359
- 1 of 1 reported patient
- HemiparesisHPOHP:0001269
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AMACRHGNC:451
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- Narrower terms (1)
Other names
2 names
Resolves to: alpha-methylacyl-CoA racemase deficiency
- Also called
- AMACRAMACR deficiency