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Article

Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

Metabolic brain disease - 1 Oct 2016

Nair Pratibha, Hamzeh Abdul Rezzak, Mohamed Madiha, Malik Ethar Mustafa, Al-Ali Mahmoud Taleb, Bastaki Fatma

Abstract excerpt

ECHS1 is a mitochondrial matrix enzyme that catalyzes an important step in the β-oxidation spiral of fatty acid catabolism, and individuals with mutations in the ECHS1 gene suffer from an autosomal recessive condition typified by delayed psychomotor development, mitochondrial encephalopathy, hypotonia, and cardiomyopathy. Here we report the first Arab case of ECHS1 Deficiency. The patient was born to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27221955
DOI: 10.1007/s11011-016-9842-x

Genes

ECHS1

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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