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Article

Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia.

Molecular genetics and metabolism - 1 Aug 2024

Demetriou Kalliope, Nisbet Janelle, Coman David, Ewing Adam D, Phillips Liza, Smith Sally, Lipke Michelle, Inwood Anita, Spicer Janette, Atthow Catherine, Wilgen Urs, Robertson Thomas, McWhinney Avis, Swenson Rebecca, Espley Brayden, Snowdon Brianna, McGill James J, Summers Kim M

Abstract excerpt

Glutaric aciduria type II (GAII) is a heterogeneous genetic disorder affecting mitochondrial fatty acid, amino acid and choline oxidation. Clinical manifestations vary across the lifespan and onset may occur at any time from the early neonatal period to advanced adulthood. Historically, some patients, in particular those with late onset disease, have experienced significant benefit from riboflavin...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38941880
DOI: 10.1016/j.ymgme.2024.108516

Genes

ETFDH
ETFA
ETFB
SLC25A32

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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