L-2-hydroxyglutaric aciduria: three Australian cases

J Inherit Metab Dis. 1993;16(3):501-4. doi: 10.1007/BF00711665.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / cerebrospinal fluid
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Amino Acid Metabolism, Inborn Errors / urine*
  • Australia
  • Child
  • Child, Preschool
  • Female
  • Glutarates / cerebrospinal fluid
  • Glutarates / urine*
  • Humans
  • Nervous System Diseases / genetics
  • Nervous System Diseases / urine*
  • Phenotype

Substances

  • Glutarates
  • alpha-hydroxyglutarate