D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?

J Inherit Metab Dis. 1993;16(3):497-500. doi: 10.1007/BF00711664.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / urine*
  • Chromatography, Gas
  • Female
  • Glutarates / blood
  • Glutarates / cerebrospinal fluid
  • Glutarates / urine*
  • Humans
  • Infant
  • Nervous System Diseases / genetics
  • Nervous System Diseases / urine*

Substances

  • Glutarates
  • alpha-hydroxyglutarate