adenine phosphoribosyltransferase deficiency

A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding

A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24.

Signs and symptoms

• Renal insufficiency
• Hematuria
• Urolithiasis
• 2,8-dihydroxyadenine crystalluria
• Oliguria
• Kidney stone
• Metabolic acidosis
• Elevated circulating creatinine concentration
• Abdominal pain
• Elevated urinary 2,8-dihydroxyadenine level

Also known as: 2,8-dihydroxyadenine urolithiasis; APRT deficiency