| Entry |
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| Name |
Beta-ureidopropionase deficiency
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| Description |
Deficiency of beta-ureidopropionase which catalyzes the biosynthesis of beta-alanine and the last step in pyrimidine degradation is an autosomal recessive condition associated with neurological and developmental problems.
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| Category |
Inherited metabolic disease; Nervous system disease
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| Pathway |
| Pyrimidine metabolism | | Drug metabolism - other enzymes |
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| Gene |
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| Drug |
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| Other DBs |
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| Reference |
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| Authors |
Yaplito-Lee J, Pitt J, Meijer J, Zoetekouw L, Meinsma R, van Kuilenburg AB |
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| Title |
Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems. |
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| Journal |
Mol Genet Metab 93:190-4 (2008) |
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| Reference |
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| Authors |
Assmann B, Gohlich G, Baethmann M, Wevers RA, Van Gennip AH, Van Kuilenburg AB, Dietrich C, Wagner L, Rotteveel JJ, Schaper J, Mayatepek E, Hoffmann GF, Voit T |
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| Title |
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. |
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| Journal |
Neuropediatrics 37:20-5 (2006) |
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| Reference |
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| Authors |
Nyhan WL |
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| Title |
Disorders of purine and pyrimidine metabolism. |
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| Journal |
Mol Genet Metab 86:25-33 (2005) |
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