Acyl-CoA binding domain containing protein 5 deficiency

MONDO:0100112

A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay.

Also known as: ACBD5 deficiency, acyl-CoA binding domain containing protein 5 deficiency

2 clinical trials for this condition and its sub-types, 1 tagged with Acyl-CoA binding domain containing protein 5 deficiency itself.

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Where it sits in the disease tree

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↑ Disorder of peroxisomal transporter (21) ↑ Disorder of peroxisomal beta oxidation (2) ↑ Disorder of plasmalogens biosynthesis (2)

Including sub-types (2) Tagged with Acyl-CoA binding domain containing protein 5 deficiency (1)

Trials to join now! 1 Completed 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

Acyl-CoA binding domain containing protein 5 deficiency

Where it sits in the disease tree

Researchers track rare metabolic disorders to unlock secrets