D-2-hydroxyglutaric aciduria.

doi:10.1177/088307389501000216

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Article

D-2-hydroxyglutaric aciduria.

Journal of child neurology - 1 Mar 1995

Nyhan W L, Shelton G D, Jakobs C, Holmes B, Bowe C, Curry C J, Vance C, Duran M, Sweetman L

Abstract excerpt

Hydroxyglutaric aciduria is detected by gas chromatographic-mass spectrometric analysis, and the D and L forms are quantified by chemical ionization with deuterated internal standards. Patients have recently been described who accumulate the D form, and they appear to be quite different from those with the more common L form. Experience is reported with three patients and an animal model with D-2-hydroxyglutaric...

Topics

Animals
Biopsy
Brain Diseases, Metabolic
Child
Child, Preschool
Dog Diseases
Dogs
Female
Gas Chromatography-Mass Spectrometry
Glutarates
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Metabolism, Inborn Errors

Muscle Hypotonia

Muscle, Skeletal

Pedigree

Phenotype

Source

Open in PubMed

Identifiers

PMID: 7782605
DOI: 10.1177/088307389501000216

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7782605-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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