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Article

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

Molecular genetics and metabolism - 1 May 2012

Fletcher Autumn L, Pennesi Mark E, Harding Cary O, Weleber Richard G, Gillingham Melanie B

Abstract excerpt

Although the retina is thought to primarily rely on glucose for fuel, inherited deficiency of one or more activities of mitochondrial trifunctional protein results in a pigmentary retinopathy leading to vision loss. Many other enzymatic deficiencies in fatty acid oxidation pathways have been described, none of which results in retinal complications. The etiology of retinopathy among patients with defects in...

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Share to Acyl-CoA Dehydrogenase, Long-Chain
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22459206
DOI: 10.1016/j.ymgme.2012.02.015
PMCID: PMC3506186

Genes

HADHA
HADHB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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