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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.

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  • Authors+Show Affiliations

    ,

    Laboratory of Biochemical Genetics, St Petersburg University, Russia.

    , ,

    Source

    MeSH

    Adenosine Monophosphate
    Adenylosuccinate Lyase
    Aminoimidazole Carboxamide
    Chromatography, Ion Exchange
    Humans
    Infant
    Infant, Newborn
    Purine-Pyrimidine Metabolism, Inborn Errors
    Ribonucleosides
    Spectrophotometry, Ultraviolet

    Pub Type(s)

    Journal Article

    Language

    eng

    PubMed ID

    7474894

    Citation

    Domkin, V D., et al. "A New Diagnostic Technique for Adenylosuccinate Lyase Deficiency." Journal of Inherited Metabolic Disease, vol. 18, no. 3, 1995, pp. 291-4.
    Domkin VD, Lazebnik TA, Roudneff AYu , et al. A new diagnostic technique for adenylosuccinate lyase deficiency. J Inherit Metab Dis. 1995;18(3):291-4.
    Domkin, V. D., Lazebnik, T. A., Roudneff AYu, ., & Smirnov, M. N. (1995). A new diagnostic technique for adenylosuccinate lyase deficiency. Journal of Inherited Metabolic Disease, 18(3), pp. 291-4.
    Domkin VD, et al. A New Diagnostic Technique for Adenylosuccinate Lyase Deficiency. J Inherit Metab Dis. 1995;18(3):291-4. PubMed PMID: 7474894.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - A new diagnostic technique for adenylosuccinate lyase deficiency. AU - Domkin,V D, AU - Lazebnik,T A, AU - Roudneff AYu,, AU - Smirnov,M N, PY - 1995/1/1/pubmed PY - 1995/1/1/medline PY - 1995/1/1/entrez SP - 291 EP - 4 JF - Journal of inherited metabolic disease JO - J. Inherit. Metab. Dis. VL - 18 IS - 3 N2 - 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. SN - 0141-8955 UR - https://www.unboundmedicine.com/medline/citation/7474894/A_new_diagnostic_technique_for_adenylosuccinate_lyase_deficiency_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0141-8955&date=1995&volume=18&issue=3&spage=291 DB - PRIME DP - Unbound Medicine ER -