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Article

MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene.

Journal of child neurology - 1 Jul 2015

Dweikat Imad M, Abdelrazeq Samer, Ayesh Suhail, Jundi Tawfeeq

Abstract excerpt

We report the first Palestinian child manifesting with 3-methylglutaconic aciduria psychomotor delay, muscle hypotonia, sensori-neural deafness, and Leigh-like lesions on brain magnetic resonance imaging (MRI), a clinical phenotype that is characteristic of MEGDEL syndrome. MEGDEL syndrome was recently found to be caused by mutations in SERAC1, encoding a protein essential for mitochondrial function, phospholipid...

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Source

Identifiers

PMID: 25051967
DOI: 10.1177/0883073814541474

Genes

SERAC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene.PMID 25051967Read ↗

Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation.Semantic proximity Read ↗

Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.Semantic proximity Read ↗

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First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.Semantic proximity Read ↗

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.Semantic proximity Read ↗

[Clinical and molecular genetic analysis of a case of MEGDEL syndrome].Semantic proximity Read ↗

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.Semantic proximity Read ↗

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