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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, 0 tagged with Acatalasia itself.

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Part of

↑ Disorder of defective peroxisome oxidative status (1)

Including sub-types (1) Tagged with Acatalasia (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