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Article

Phenotype of adult Refsum disease due to a defect in peroxin 7.

Neurology - 27 Feb 2007

Horn M A, van den Brink D M, Wanders R J A, Duran M, Poll-The B T, Tallaksen C M E, Stokke O H, Moser H, Skjeldal O H

Abstract excerpt

The biochemical hallmark of adult Refsum disease (ARD) is an isolated deficiency in the breakdown of phytanic acid. This usually results from a PHYH gene defect, although some cases have been found to carry a PEX7 defect. We describe the phenotype of such a patient, indistinguishable from that of...

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Source

Identifiers

PMID: 17325280
DOI: 10.1212/01.wnl.0000255960.01644.39

Genes

PEX7
PHYH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17325280-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

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Phenotype of adult Refsum disease due to a defect in peroxin 7.PMID 17325280Read ↗

Identification of PEX7 as the second gene involved in Refsum disease.Semantic proximity Read ↗

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).Semantic proximity Read ↗

Identification of novel pathogenic variants in the PHYH gene and extending the phenotypic range in Refsum disease.Semantic proximity Read ↗

Genotype-phenotype correlations in disorders of peroxisome biogenesis.Semantic proximity Read ↗

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.Semantic proximity Read ↗

Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.Semantic proximity Read ↗

Structural and mechanistic studies on the peroxisomal oxygenase phytanoyl-CoA 2-hydroxylase (PhyH).Semantic proximity Read ↗

Identification of PEX7 as the second gene involved in Refsum disease.Semantic proximity Read ↗

Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.Semantic proximity Read ↗

Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation.Semantic proximity Read ↗

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.Semantic proximity Read ↗

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.Semantic proximity Read ↗

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