Urinary 2,8-dihydroxyadenine excretion in patients with APRT deficiency, carriers and healthy control subjects

ConclusionsHigh DHA excretion was observed in patients with APRT deficiency, while urine DHA was undetectable in heterozygotes and healthy controls. Our results suggest that the UPLC-MS/MS assay can be used for diagnosis of APRT deficiency.
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research