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Article

A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.

Journal of the neurological sciences - 15 Jan 2018

van der Westhuizen Francois H, Smuts Izelle, Honey Engela, Louw Roan, Schoonen Maryke, Jonck Lindi-Maryn, Dercksen Marli

Abstract excerpt

Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD type I) is an autosomal recessive disorder of the electron transfer flavoprotein function characterized by a severe clinical and biochemical phenotype, including congenital abnormalities with unresponsiveness to riboflavin treatment as distinguishing features. From a retrospective study, relying mainly on metabolic data, we have identified a novel...

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Identifiers

PMID: 29249369
DOI: 10.1016/j.jns.2017.11.012

Genes

MADD
ETFDH
SDS

Variants

Provenance

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A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency.PMID 29249369Read ↗

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Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.Semantic proximity Read ↗

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Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.Semantic proximity Read ↗

Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency.Semantic proximity Read ↗

A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report.Semantic proximity Read ↗

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A fatal case of neonatal onset multiple Acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report.Semantic proximity Read ↗

Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.Semantic proximity Read ↗

Conformational analysis of the riboflavin-responsive ETF:QO-p.Pro456Leu variant associated with mild multiple acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

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