Home > D. General pathology > Genetic and developmental anomalies > xanthinuria type 2
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