Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene

J Inherit Metab Dis. 2000 Jun;23(4):308-12. doi: 10.1023/a:1005690005439.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / drug therapy
  • Amino Acid Metabolism, Inborn Errors / enzymology*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Arginine / administration & dosage
  • Arginine / therapeutic use
  • Argininosuccinate Lyase / genetics*
  • Argininosuccinic Acid / blood
  • Argininosuccinic Aciduria
  • Child, Preschool
  • Hepatomegaly / complications
  • Humans
  • Hyperammonemia / blood
  • Hyperammonemia / complications
  • Hyperammonemia / drug therapy
  • Hyperammonemia / enzymology
  • Point Mutation*
  • Psychomotor Disorders / complications
  • RNA Splicing*
  • Sodium Benzoate / administration & dosage
  • Sodium Benzoate / therapeutic use

Substances

  • Argininosuccinic Acid
  • Arginine
  • Argininosuccinate Lyase
  • Sodium Benzoate