Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy

J Inherit Metab Dis. 1996;19(3):369-70. doi: 10.1007/BF01799270.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Brain / abnormalities*
  • Glutarates / urine*
  • Humans
  • Infant
  • Male

Substances

  • Glutarates
  • alpha-hydroxyglutarate