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Article

A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency.

American journal of medical genetics. Part A - 1 Apr 2023

Prasun Pankaj, Evans Anthony, Cork Emalyn, Houten Sander M, Webb Bryn D

Abstract excerpt

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid, and choline metabolism. We describe a patient identified through newborn screening in which the diagnosis of MADD was confirmed based on metabolic profiling, but clinical molecular sequencing of ETFA, ETFB, and ETFDH was normal. In order to identify the genetic etiology of MADD, we performed whole...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36579410
DOI: 10.1002/ajmg.a.63104

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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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