Macrocephaly: an important indication for organic acid analysis

J Inherit Metab Dis. 1991;14(3):329-32. doi: 10.1007/BF01811695.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / urine
  • Amino Acids / urine*
  • Aspartic Acid / analogs & derivatives
  • Aspartic Acid / urine
  • Brain Diseases / diagnosis*
  • Brain Diseases / diagnostic imaging
  • Brain Diseases / enzymology
  • Child
  • Child, Preschool
  • Female
  • Glutaryl-CoA Dehydrogenase
  • Head / anatomy & histology
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Oxidoreductases / deficiency*
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Prenatal Diagnosis
  • Tomography, X-Ray Computed

Substances

  • Amino Acids
  • Aspartic Acid
  • N-acetylaspartate
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • Glutaryl-CoA Dehydrogenase