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Article

Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes.

Pediatric research - 1 Mar 1990

Loehr J P, Goodman S I, Frerman F E

Abstract excerpt

We have examined 23 fibroblast lines from patients with neonatal and late onset glutaric acidemia type II and fibroblasts from four parents of these patients. Fifteen of these patients are previously unreported. Results of these investigations show deficiency of electron transfer flavoprotein or electron transfer flavoprotein-ubiquinone oxidoreductase activity in all of the patients' fibroblasts. Immunoblots...

Topics

Cell Line
Electron-Transferring Flavoproteins
Fatty Acid Desaturases
Female
Fibroblasts
Flavoproteins
Glutarates
Humans
Immunoblotting
Infant
Infant, Newborn
Iron-Sulfur Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Metabolism, Inborn Errors

Multienzyme Complexes

Oxidoreductases Acting on CH-NH Group Donors

Phenotype

Source

Identifiers

PMID: 2320399
DOI: 10.1203/00006450-199003000-00024

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2320399-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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