HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

A new diagnostic technique for adenylosuccinate lyase deficiency.

Abstract
A convenient and simple method of diagnosing adenylosuccinate lyase (ASL) deficiency is described. This method consists of (1) isolation of SAICA riboside and S-Ado with a cation exchange resin; (2) measurement of the UV absorbance of the ammonia eluate at 270 and 250 nm; (3) calculation of the A270/A250 ratio. If the value of this ratio is less than 0.45, the patient has a normal level of ASL activity. If the value of this ratio is greater than 0.70, the patient has ASL deficiency.
AuthorsV D Domkin, T A Lazebnik, Roudneff AYu, M N Smirnov
JournalJournal of inherited metabolic disease (J Inherit Metab Dis) Vol. 18 Issue 3 Pg. 291-4 ( 1995) ISSN: 0141-8955 [Print] United States
PMID7474894 (Publication Type: Journal Article)
Chemical References
  • Ribonucleosides
  • succinylaminoimidazole carboxamide riboside
  • adenylosuccinate
  • Aminoimidazole Carboxamide
  • Adenosine Monophosphate
  • Adenylosuccinate Lyase
Topics
  • Adenosine Monophosphate (analogs & derivatives, urine)
  • Adenylosuccinate Lyase (deficiency)
  • Aminoimidazole Carboxamide (analogs & derivatives, urine)
  • Chromatography, Ion Exchange
  • Humans
  • Infant
  • Infant, Newborn
  • Purine-Pyrimidine Metabolism, Inborn Errors (enzymology)
  • Ribonucleosides (urine)
  • Spectrophotometry, Ultraviolet

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: