Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism pp 165-167 | Cite as
Dihydropyrimidinuria Presenting in Childhood with Severe Developmental Retardation
Abstract
Dihydropyrimidinase (5,6-dihydropyrimidine amidohydrolase; EC 3.5.2.2), is the second enzyme involved in the breakdown of the pyrimidine bases uracil and thymine and catalyses the degradation of dihydrouracil and dihydrothymine to (β-ureidopropionic acid and (β-ureidoisobutyric acid, respectively. The first case of dihydropyrimidinuria in humans was reported recently in an infant presenting with convulsions (Duran et al. 1991). A deficiency of dihydropyrimidinase was assumed from the accumulation and excretion in the urine of the substrates for the enzyme, dihydrouracil and dihydrothymine. A single defect of the pyrimidine catabolic pathway had been described previously, involving the precursor enzyme dihydropyrimidine dehydrogenase (DHPD: EC 1.3.1.2), in patients with a variety of neurological abnormalities Brockstedt et al. 1990).
Keywords
Neurological Abnormality Single Defect Sodium Valproate Dihydropyrimidine Dehydrogenase Pyrimidine MetabolismPreview
Unable to display preview. Download preview PDF.
References
- Brackstedt M, Jakobs C, Smit LME, van Gennip AH, Berger R (1990) A new case of dihydropyrimidine dehydrogenase deficiency. J Inher Metab Dis 13: 121–124CrossRefGoogle Scholar
- Duran M, Rovers P, de Bree PK, Schreuder CH, Beukenhorst H, Dorland L, Berger R (1991) Dihydropyrimidinuria: a new inborn error of pyrimidine metabolism. J Inher Metab Dis 14: 367–370Google Scholar
- Henderson MJ, Ward K, Simmonds HA, Duley JA, Davies PM (1993) Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay. J Inher Metab Dis (in press)Google Scholar
- Van Gennip AH, Busch S, Schölten EG, Abeling NGMM (1992) Simple method for the quantitative analysis of dihydropyrimidines and N-carbamyl-ß-amino acids in urine. Adv Exp Med Biol 309B: 15–19Google Scholar