Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells

Biochim Biophys Acta. 1998 Feb 27;1406(1):81-4. doi: 10.1016/s0925-4439(97)00086-0.


We determined the DNA sequence of the adenylosuccinate lyase (ASL) gene from a 13 year-old female, who showed a reduced ASL enzymatic activity in lymphocytes and red blood cells and suffered from severe psychomotor retardation. The patient was the offspring of a non-consanguineous marriage. She was found to be compound heterozygous for two missense-mutations located on different alleles (C300-G and G1266-T): the first mutation replaces Pro75 by Ala, the second mutation replaces Asp397 by Tyr.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenylosuccinate Lyase / genetics*
  • Adult
  • Child
  • Enzyme Activation
  • Erythrocytes / enzymology*
  • Female
  • Humans
  • Lymphocytes / enzymology*
  • Male
  • Middle Aged
  • Mutation*
  • Psychomotor Disorders / blood
  • Psychomotor Disorders / genetics*


  • Adenylosuccinate Lyase