A new diagnostic technique for adenylosuccinate lyase deficiency

V D Domkin; T A Lazebnik; Roudneff AYu; M N Smirnov

doi:10.1007/BF00710417

A new diagnostic technique for adenylosuccinate lyase deficiency

J Inherit Metab Dis. 1995;18(3):291-4. doi: 10.1007/BF00710417.

Authors

V D Domkin¹, T A Lazebnik, Roudneff AYu, M N Smirnov

Affiliation

¹ Laboratory of Biochemical Genetics, St Petersburg University, Russia.

PMID: 7474894
DOI: 10.1007/BF00710417

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.

MeSH terms

Adenosine Monophosphate / analogs & derivatives
Adenosine Monophosphate / urine
Adenylosuccinate Lyase / deficiency*
Aminoimidazole Carboxamide / analogs & derivatives
Aminoimidazole Carboxamide / urine
Chromatography, Ion Exchange
Humans
Infant
Infant, Newborn
Purine-Pyrimidine Metabolism, Inborn Errors / enzymology*
Ribonucleosides / urine
Spectrophotometry, Ultraviolet

Substances

Ribonucleosides
succinylaminoimidazole carboxamide riboside
adenylosuccinate
Aminoimidazole Carboxamide
Adenosine Monophosphate
Adenylosuccinate Lyase