Dihydropyrimidinase deficiency

Definition:

Dihydropyrimidinase deficiency is characterized by dihydropyrimidinuria and is associated with seizures and mental retardation.

References:

[1]. A H van Gennip, et al. Dihydropyrimidinase deficiency: confirmation of the enzyme defect in dihydropyrimidinuria. J Inherit Metab Dis. 1997 Jul;20(3):339-42. [Content Brief]

[2]. N Hamajima, et al. Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. Am J Hum Genet. 1998 Sep;63(3):717-26. [Content Brief]

[3]. William L Nyhan, et al. Disorders of purine and pyrimidine metabolism. Mol Genet Metab. 2005 Sep-Oct;86(1-2):25-33. [Content Brief]

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