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Article

Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation.

The Turkish journal of pediatrics - 1 Jan 2000

Ünal Özlem, Özgül R Köksal, Yücel Didem, Yalnızoğlu Dilek, Tokatlı Ayşegül, Sivri H Serap, Hişmi Burcu, Coşkun Turgay, Dursun Ali

Abstract excerpt

Association of 3-methylglutaconic aciduria with impaired oxidative phosphorylation, deafness, encephalopathy, leigh-like lesions on brain imaging, progressive spasticity and dystonia defined as a distinct entity under the name of MEGDEL syndrome. It is an autosomal recessive disorder due to mutation in the serine active site-containing protein 1 (SERAC1). SERAC1 is localized at the interface between the...

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Source

Identifiers

PMID: 27186703

Genes

SERAC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation.PMID 27186703Read ↗

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

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