Adenine phosphoribosyltransferase deficiency
MONDO:0013869Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.
Also known as: 2,8-dihydroxyadenine urolithiasis, 2,8-dihydroxyadeninuria disease, APRT deficiency, adenine phosphoribosyltransferase deficiency, APRTD, Dihydroxyadeninuria, nephrolithiasis, Dha, urolithiasis, 2,8-dihydroxyadenine
6 clinical trials for this condition and its sub-types.
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Disease
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Metabolic disease
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Hereditary disease
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Inborn errors of metabolism
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Human disease
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Inborn disorder of amino acid metabolism
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Disease of genetic or genomic mechanism
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Amino acid metabolism disease
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Inborn disorder of purine or pyrimidine metabolism
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Disease by developmental or physiological process
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