Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings

J Inherit Metab Dis. 1998 Jun;21(3):240-2. doi: 10.1023/a:1005307919767.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / cerebrospinal fluid*
  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Amino Acid Metabolism, Inborn Errors / urine
  • Aromatic-L-Amino-Acid Decarboxylases / deficiency*
  • Biogenic Amines / cerebrospinal fluid*
  • Biogenic Amines / urine
  • Diagnostic Tests, Routine
  • Female
  • Humans
  • Infant

Substances

  • Biogenic Amines
  • Aromatic-L-Amino-Acid Decarboxylases