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Fatty acyl-CoA reductase defects

MONDO:0100275

Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene.

Also known as: FAR1 defect, fatty acyl-CoA reductase defects

1 clinical trial for this condition and its sub-types, 0 tagged with Fatty acyl-CoA reductase defects itself.

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Where it sits in the disease tree

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Part of

↑ Disorder of plasmalogens biosynthesis (2)

Sub-types of Fatty acyl-CoA reductase defects

Fatty acyl-CoA reductase 1 deficiency 0 trials
Fatty acyl-CoA reductase 1 upregulation 0 trials

Including sub-types (1) Tagged with Fatty acyl-CoA reductase defects (0)

New diagnostic strategy aims to end diagnostic odyssey for rare diseases

Diagnosis Completed

This study tested a new approach to diagnose peroxisomal disorders, a group of rare genetic diseases. The strategy uses advanced metabolic and genetic tests to find the cause faster in people with suspicious symptoms or lab results. Researchers included 8 participants from four h…

Sponsor: University Hospital, Lille • Aim: Diagnosis

Last updated Jun 27, 2026 08:02 UTC