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Acatalasia

MONDO:0013571

A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.

Also known as: acatalasemia, acatalasia, catalase deficiency

1 clinical trial for this condition and its sub-types.

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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) Disorder of defective peroxisome oxidative status (0)
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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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