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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.

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Sub-types

Fatty acyl-CoA reductase 1 deficiency (0) Fatty acyl-CoA reductase 1 upregulation (0)

Broader categories

Disease (717) Metabolic disease (241) Inherited lipid metabolism disorder (199) Hereditary disease (188) Inborn errors of metabolism (47) Human disease (15) Disease of genetic or genomic mechanism (2) Peroxisomal disease (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
Completed 1
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  • 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

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