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Adenine phosphoribosyltransferase deficiency

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.

Confusion

Lack of clarity and coherence of thought, perception, understanding, or action.

Total: 1

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PMID (PMCID)
2642113	MIXED_SAMPLE	Infant
	Purine enzyme defects as a cause of acute renal failure in childhood.
	Simmonds HA, Cameron JS, Barratt TM, Dillon MJ, Meadow SR, Trompeter RS. Pediatr Nephrol. 1989;3(4):433-7.
	This is important in view of the potential confusion of uric acid with 2,8-dihydroxyadenine, the even more insoluble purine excreted in the other salvage enzyme disorder, adenine phosphoribosyltransferase deficiency.