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Diagnosing AICA-ribosiduria by capillary electrophoresis

Result description

AICA-ribosiduria is a recently discovered inherited metabolic disease caused by a defect in final steps of purine de novo biosynthesis-5-amino-4-imidazolecarboxamide ribotide (AICAR)-transformylase/inosinemonophosphate (IMP)-cyclohydrolase (ATIC). A rapid and selective capillary electrophoretic method for screening of patients with AICA-ribosiduria is described. The method is based on direct ultraviolet detection of 5-amino-4-imidazolecarboxamide (AICA) and 5-amino-4-imidazolecarboxamide riboside (AICAr) in untreated urine. Background electrolyte consists of 100 mM malonic acid adjusted with γ-aminobutyric acid (pH 2.7).

Keywords

Inborn errorsPurinesMetabolismScreening

The result's identifiers

Alternative languages

  • Result language

    angličtina

  • Original language name

    Diagnosing AICA-ribosiduria by capillary electrophoresis

  • Original language description

    AICA-ribosiduria is a recently discovered inherited metabolic disease caused by a defect in final steps of purine de novo biosynthesis-5-amino-4-imidazolecarboxamide ribotide (AICAR)-transformylase/inosinemonophosphate (IMP)-cyclohydrolase (ATIC). A rapid and selective capillary electrophoretic method for screening of patients with AICA-ribosiduria is described. The method is based on direct ultraviolet detection of 5-amino-4-imidazolecarboxamide (AICA) and 5-amino-4-imidazolecarboxamide riboside (AICAr) in untreated urine. Background electrolyte consists of 100 mM malonic acid adjusted with γ-aminobutyric acid (pH 2.7).

  • Czech name

    Diagnostika AICA-ribosidurie kapilární elektroforézou

  • Czech description

    Je popsána metoda diagnostiky AICA-ribosidurie kapilární elektroforézou.

Classification

  • Type

    Jx - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    CE - Biochemistry

  • OECD FORD branch

Result continuities

Others

  • Publication year

    2006

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Journal of Chromatography

  • ISSN

    0021-9673

  • e-ISSN

  • Volume of the periodical

    843

  • Issue of the periodical within the volume

    1

  • Country of publishing house

    NL - THE KINGDOM OF THE NETHERLANDS

  • Number of pages

    5

  • Pages from-to

    15-19

  • UT code for WoS article

  • EID of the result in the Scopus database

Basic information

Result type

Jx - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

Jx

CEP

CE - Biochemistry

Year of implementation

2006