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xanthinuria type 2

MIM.603592

Friday 18 March 2005

Synopsis

- mental delay
- autism
- nephrocalcinosis
- osteopenia
- hair defects
- teeth defects
- renal cortical cysts (#14627688#)

Etiology

- mutation in type II xanthinuria may not be in the structural gene for either xanthine dehydrogenase or aldehyde oxidase, but possibly in the mechanism responsible for inserting the essential sulfur atom into the active center of both enzymes. (MIM.603592)

See also

- xanthinuria type 1

References

- Zannolli R, Micheli V, Mazzei MA, Sacco P, Piomboni P, Bruni E, Miracco C, de Santi MM, Terrosi Vagnoli P, Volterrani L, Pellegrini L, Livi W, Lucani B, Gonnelli S, Burlina AB, Jacomelli G, Macucci F, Pucci L, Fimiani M, Swift JA, Zappella M, Morgese G. Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects. J Med Genet. 2003 Nov;40(11):e121. PMID: #14627688#