inheritance. APRT deficiency is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. Characteristics The disorder results in accumulation of the insoluble purine 2,8-dihydroxyadenine. It can result in nephrolithiasis (kidney stones), acute renal failure and permanent kidney damage. More than 300 individuals with this disease have been reported world-wide but it is not known how common this medical problem truly is. Patients with the disease deficiency lack the enzyme<unk><unk>  and therefore have difficulties breaking down dietary substances called purines, resulting in accumulation of a compound called 2,8-dihydroxyadenine (2,8-DHA) that is excreted by the kidneys. Up to 70% of affected patients, have red hair or relatives with this hair color.
Adenine phosphoribosyltransferase deficiency
Methylenetetrahydrofolate reductase deficiency
Purine nucleoside phosphorylase deficiency
Dihydropyrimidine dehydrogenase deficiency
Adenosine deaminase deficiency
Adenosine deaminase 2 deficiency
Ribose-5-phosphate isomerase deficiency
Dihydrofolate reductase deficiency