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alpha-methylacyl-CoA racemase deficiency (AMACR) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

alpha-methylacyl-CoA racemase deficiency

MONDO:0013681

Also known as:AMACRAMACR deficiencyAMACRD

Find Clinical TrialsTrials

Overview

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.

GeneticsAutosomal recessive · AMACR (chr 5)

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Constriction of peripheral visual field, Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts, Intention tremor, and Depression and others; and common findings: Seizure, Pigmentary retinopathy, Nerve damage affecting sensation and movement (sensorimotor neuropathy), and Visual impairment and others. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

AMACR encodes alpha-methylacyl-CoA racemase (382 aa). Catalyzes the interconversion of (R)- and (S)-stereoisomers of alpha-methyl-branched-chain fatty acyl-CoA esters. Highest expression in Kidney Medulla (40.8 TPM) and Kidney Cortex (35.6 TPM).

Alpha-methylacyl-CoA racemase deficiency is caused by mutations in the AMACR gene on chromosome 5.

The AMACR protein participates in Isomerization of (2R)-pristanoyl-CoA to (2S)-pristanoyl-CoA pathway.

AMACR is classified as a druggable target (Enzyme category) with score 2.2.

Diagnosis

Genetic testing for AMACR is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 12 always present features, 5 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

10 publications have been identified in PubMed for alpha-methylacyl-CoA racemase deficiency. Research spans Case Report / Case Series (40%), Review / Meta-Analysis (20%), and Gene Therapy / Novel Therapeutics (20%).

Research Type	Count	% of Total
Patient case studies	4	40%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 8:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614307

GARD

Genetic and Rare Diseases Info Center

GARD:15787

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

alpha-methylacyl-CoA racemase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

alpha-methylacyl-CoA racemase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications