Adenylosuccinate lyase deficiency in a Czech girl and two siblings

Adv Exp Med Biol. 1994:370:367-70. doi: 10.1007/978-1-4615-2584-4_79.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adenylosuccinate Lyase / deficiency*
  • Adenylosuccinate Lyase / genetics
  • Aminoimidazole Carboxamide / analogs & derivatives
  • Aminoimidazole Carboxamide / blood
  • Aminoimidazole Carboxamide / cerebrospinal fluid
  • Aminoimidazole Carboxamide / urine
  • Child
  • Child, Preschool
  • Female
  • Genes, Recessive
  • Humans
  • Male
  • Purine-Pyrimidine Metabolism, Inborn Errors / diagnosis*
  • Purine-Pyrimidine Metabolism, Inborn Errors / enzymology
  • Purine-Pyrimidine Metabolism, Inborn Errors / genetics
  • Ribonucleotides / blood
  • Ribonucleotides / cerebrospinal fluid
  • Ribonucleotides / urine
  • S-Adenosylmethionine / blood
  • S-Adenosylmethionine / cerebrospinal fluid
  • S-Adenosylmethionine / urine

Substances

  • Ribonucleotides
  • Aminoimidazole Carboxamide
  • S-Adenosylmethionine
  • Adenylosuccinate Lyase
  • SAICAR