Alpha-methylacyl-CoA racemase deficiency

MONDO:0013681

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.

Also known as: AMACR, AMACR deficiency, alpha-methylacyl-CoA racemase deficiency, AMACRD

3 clinical trials for this condition and its sub-types, 2 tagged with Alpha-methylacyl-CoA racemase deficiency itself.

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↑ Disorder of peroxisomal beta oxidation (2)

Sub-types of Alpha-methylacyl-CoA racemase deficiency

Congenital bile acid synthesis defect 4 0 trials

Including sub-types (3) Tagged with Alpha-methylacyl-CoA racemase deficiency (2)

Trials to join now! 1 Not yet finished but already full! 1

Researchers track rare metabolic disorders to unlock secrets

Knowledge-focused Recruiting now

This study follows people with peroxisome biogenesis disorders (PBD) to learn more about how the disease progresses. Researchers will collect medical records, test results, and images over time from up to 244 participants. No new treatments are being tested; the goal is to better…

Sponsor: McGill University Health Centre/Research Institute of the McGill University Health Centre • Aim: Knowledge-focused

Last updated Jun 27, 2026 08:03 UTC

Alpha-methylacyl-CoA racemase deficiency

Where it sits in the disease tree

Researchers track rare metabolic disorders to unlock secrets