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Alkylglycerone-phosphate synthase deficiency

MONDO:0100274

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

Also known as: AGPS deficiency, alkylglycerone-phosphate synthase deficiency

2 clinical trials for this condition and its sub-types.

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Sub-types

Rhizomelic chondrodysplasia punctata type 3 (1)

Broader categories

Disease (680) Metabolic disease (233) Inherited lipid metabolism disorder (189) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Disease of genetic or genomic mechanism (2) Peroxisomal disease (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
Trials to join now! 1 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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