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Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.

Molecular genetics and metabolism - 1 May 2008

Yotsumoto Yuka, Hasegawa Yuki, Fukuda Seiji, Kobayashi Hironori, Endo Mitsuru, Fukao Toshiyuki, Yamaguchi Seiji

Abstract excerpt

Glutaric acidemia type 2 (GA2) is an autosomal recessive disorder resulting from a deficiency of electron transfer flavoprotein (ETF) or ETF dehydrogenase (ETFDH) that manifests from most severe neonatal to late-onset forms. However, the genetic defect responsible for the disease and clinical severity is not well-characterized. In order to understand the relationship between the phenotype and genetic defect, we...

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Source

Identifiers

PMID: 18289905
DOI: 10.1016/j.ymgme.2008.01.002

Genes

ETFDH
ETFA
ETFB

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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Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.PMID 18289905Read ↗

Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II.Semantic proximity Read ↗

A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.Semantic proximity Read ↗

A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases.Semantic proximity Read ↗

Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II.Semantic proximity Read ↗

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

[Clinical features and ETFDH mutations of children with late-onset glutaric aciduria type II: a report of two cases].Semantic proximity Read ↗

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Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients.Semantic proximity Read ↗

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