D-2-hydroxyglutaric aciduria

J Child Neurol. 1995 Mar;10(2):137-42. doi: 10.1177/088307389501000216.

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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Biopsy
  • Brain Diseases, Metabolic / diagnosis
  • Brain Diseases, Metabolic / genetics*
  • Brain Diseases, Metabolic / urine
  • Brain Diseases, Metabolic / veterinary
  • Child
  • Child, Preschool
  • Dog Diseases / diagnosis
  • Dog Diseases / genetics
  • Dog Diseases / urine
  • Dogs
  • Female
  • Gas Chromatography-Mass Spectrometry
  • Glutarates / urine*
  • Humans
  • Infant
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Intellectual Disability / urine
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / genetics*
  • Metabolism, Inborn Errors / urine
  • Metabolism, Inborn Errors / veterinary
  • Muscle Hypotonia / diagnosis
  • Muscle Hypotonia / genetics*
  • Muscle Hypotonia / urine
  • Muscle Hypotonia / veterinary
  • Muscle, Skeletal / pathology
  • Pedigree
  • Phenotype
  • Stereoisomerism

Substances

  • Glutarates
  • alpha-hydroxyglutarate