D-2-Hydroxyglutaric Aciduria

William L. Nyhan, Bonnie Holmes, G. Diane Shelton, Cornelis Jakobs, Cynthia J.R. Curry, Carol Vance, Marinus Duran, Lawrence Sweetman

Research output: Contribution to journalArticlepeer-review

Abstract

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 aciduria. The phenotype appears to include mental retardation, macrocephaly, hypotonia, seizures, and involuntary movements, although neurologic and systemic manifestations of the disorder varied considerably between individual patients, even within the same family. (J Child Neurol 1995;10:137-142).

Original languageEnglish (US)
Pages (from-to)137-142
Number of pages6
JournalJournal of child neurology
Volume10
Issue number2
DOIs
StatePublished - Mar 1995

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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