The inheritance of the de novo purine synthesis (DNPS) disorders is autosomal recessive, which means that both parents carry one copy of the mutated gene and an affected child interited both of them.
Currently, there are described four DNPS disorders: PFAS deficiency, PAICS deficiency, ADSL deficiency and AICAribosiduria.
Diagnostics is based on the detection of the metabolites in urine and subsequently on the detection of mutations in the particular DNA isolated from blood.
There is currently no cure for this rare disorders.
https://www.rcsb.org/structure/2H31