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Disorder of peroxisomal beta oxidation

MONDO:0019233

Also known as: disorder of peroxisomal beta oxidation

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

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Sub-types

Alpha-methylacyl-CoA racemase deficiency (2) D-bifunctional protein deficiency (2) Peroxisomal acyl-CoA oxidase deficiency (2) Acyl-CoA binding domain containing protein 5 deficiency (1) Sterol carrier protein 2 deficiency (1) Congenital bile acid synthesis defect 4 (0)

Broader categories

Disease (680) Metabolic disease (233) 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) Peroxisomal single enzyme/protein defect (0)

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

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