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Article

Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD).

Molecular genetics and metabolism - 1 Aug 2012

Trakadis Y, Kadlubowska D, Barnes R, Mitchell J, Spector E, Frerman F, Melancon S

Abstract excerpt

We describe the pregnancy of a patient of French-Canadian descent with multiple Acyl-CoA dehydrogenation deficiency (MADD). The proband was found to harbor a previously reported homozygous missense mutation on EFTDH gene (p.Pro534Leu:c.1601C>T) confirming the biochemical diagnosis of MADD. This mutation was not found in 50 controls from the same ethnic background. The clinical and molecular information of all...

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Source

Identifiers

PMID: 22664151
DOI: 10.1016/j.ymgme.2012.05.001

Genes

MADD
ETFDH

Variants

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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