xanthinuria type 2

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