Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay

J Inherit Metab Dis. 1993;16(3):574-6. doi: 10.1007/BF00711685.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amidohydrolases / deficiency*
  • Chromatography, High Pressure Liquid
  • Developmental Disabilities / complications
  • Developmental Disabilities / enzymology*
  • Humans
  • Infant
  • Male
  • Nervous System Diseases / complications
  • Nervous System Diseases / urine
  • Pyrimidines / urine
  • Seizures / complications
  • Seizures / urine
  • Spectrophotometry, Ultraviolet

Substances

  • Pyrimidines
  • Amidohydrolases
  • dihydropyrimidinase