Phytanoyl-CoA hydroxylase deficiency
MONDO:0100258Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.
Also known as: PHYH deficiency, PHYH related disorder of peroxisomal alpha oxidation, phytanoyl-CoA hydroxylase deficiency
5 clinical trials for this condition and its sub-types.
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Broader categories
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New diagnostic strategy aims to end diagnostic odyssey for rare diseases
Diagnosis CompletedThis 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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Could a single DNA test solve the mystery of rare brain diseases in kids?
Knowledge-focused CompletedThis study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC