BabyScreen+ newborn screening

Gene: APRT

Red List (low evidence)

Well established gene-disease association.

Variable severity and age of onset: leads to accumulation of the insoluble purine 2,8-dihydroxyadenine (DHA) in the kidney, which results in crystalluria and the formation of urinary stones. Clinical features include renal colic, haematuria, urinary tract infection, dysuria, and, in some cases, renal failure. The age at onset can range from 5 months to late adulthood; however, as many as 50% of APRT-deficient individuals may be asymptomatic.

Treatable: allopurinol or febuxostat, low purine diet.

Created: 22 Sep 2022, midnight | Last Modified: 22 Sep 2022, midnight

Panel Version: 0.112

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adenine phosphoribosyltransferase deficiency MIM#614723