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Article

CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids.

Biochimica et biophysica acta - 1 Oct 2016

van Engen Catherine E, Ofman Rob, Dijkstra Inge M E, van Goethem Tessa Jacobs, Verheij Eveline, Varin Jennifer, Vidaud Michel, Wanders Ronald J A, Aubourg Patrick, Kemp Stephan, Barbier Mathieu

Abstract excerpt

X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder caused by the accumulation of very long-chain fatty acids (VLCFA) due to mutations in the ABCD1 gene. The phenotypic spectrum ranges from a fatal cerebral demyelinating disease in childhood (cerebral ALD) to a progressive myelopathy without cerebral involvement in adulthood (adrenomyeloneuropathy). Because ABCD1 mutations have no...

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Share to Adrenoleukodystrophy
Share to ATP Binding Cassette Transporter, Subfamily D, Member 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Cytochrome P450 Family 4

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Source

Identifiers

PMID: 27425035
DOI: 10.1016/j.bbadis.2016.07.006

Genes

ABCD1

Variants

rs2108622

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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