Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation.

ABSTRACT:

Background and aims

Inborn errors of purine and pyrimidine metabolism are a diverse group of disorders with possible serious or life-threatening symptoms. They may be associated with neurological symptoms, renal stone disease or immunodeficiency. However, the clinical presentation can be nonspecific and mild so that a number of cases may be missed. Previously published assays lacked detection of certain diagnostically important biomarkers, including SAICAr, AICAr, beta-ureidoisobutyric acid, 2,8-dihydroxyadenine and orotidine, necessitating the use of separate assays for their detection. Moreover, the limited sensitivity for some analytes in earlier assays may have hampered the reliable detection of mild cases. Therefore, we aimed to develop a liquid chromatography-tandem mass spec

SUBMITTER: Monostori P 

PROVIDER: S-EPMC6394934 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature