Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency
نویسندگان
چکیده
منابع مشابه
Adenine phosphoribosyltransferase deficiency
Key-words Disease name and synonyms Definition Excluded diseases Diagnosis criteria Differential diagnosis Prevalence Molecular defect Clinical description Management including treatment Etiology Diagnostic methods Antenatal diagnosis Unresolved questions References Abstract Adenine phosphoribosyltransferase (APRT) catalyzes the synthesis of AMP (adenosine monophosphate) from adenine and 5'-pho...
متن کاملAdenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis
Background: Recurrent urolithiasis is troublesome for both patient and clinician, and in most cases, an underlying cause is not found. An important and underdiagnosed cause is adenine phosphoribosyltransferase (APRT) deficiency that gives rise to 2,8-dihydroxyadenine (2,8-DHA) stones. If diagnosed early, patient morbidity as well as the financial cost of treating stone recurrence can be avoided...
متن کاملAdenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction.
Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive disorder manifesting as urolithiasis or crystalline nephropathy. It leads to the generation of large amounts of poorly soluble 2,8-dihydroxyadenine excreted in urine, yielding kidney injury and in some patients, kidney failure. Early recognition of the disease, institution of xanthine analog therapy to block the formatio...
متن کاملAdenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation
BACKGROUND Adenine phosphoribosyltransferase deficiency (APRTD) is an under estimated genetic form of kidney stones and/or kidney failure, characterized by intratubular precipitation of 2,8-dihydroxyadenine crystals (2,8-DHA). Currently, five pathologic allelic variants have been identified as responsible of the complete inactivation of APRT protein. CASE PRESENTATION In this study, we report...
متن کاملPhenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder causing 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. Little is known regarding the clinical presentation of APRT deficiency, especially in the white population. We retrospectively reviewed all 53 cases of APRT deficiency (from 43 families) identified a...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2021
ISSN: 1018-4813,1476-5438
DOI: 10.1038/s41431-020-00805-6