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Article

First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant.

Orphanet journal of rare diseases - 18 Nov 2025

Parvini Farshid, Ajam-Hosseini Mobarakeh, Shadpour Marziyeh

Abstract excerpt

BACKGROUND: Glutaric acidemia type II (GA2), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is a rare inherited error of amino acid and fatty acid metabolism. Its clinical manifestations can vary from severe events that threaten the life of a newborn to milder and late manifestations. Here, we examined an Iranian couple for pre-pregnancy counseling who had a history of the death of two children...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41254678
DOI: 10.1186/s13023-025-04107-2
PMCID: PMC12625316

Genes

ETFA
MADD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant.PMID 41254678Read ↗

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