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Pathway Description
beta-Ureidopropionase Deficiency
Homo sapiens
Disease Pathway
Beta-ureidopropionase deficiency (Beta Alanine-Synthase Deficiency, UPB1, BUP1) is an autosomal recessive disease caused by mutations in the UPB1 gene which codes for beta-ureidopropionase. A deficiency in this enzyme results in accumulation of N-carbamyl-beta-amino acids. Symptoms include hypotonia, dystonic movements, scoliosis, microcephaly, and severe developmental delay.
References
beta-Ureidopropionase Deficiency References
[Uniprot: A3KMF8](http://www.uniprot.org/uniprot/A3KMF8)
[Wikipedia: UPB1](http://en.wikipedia.org/wiki/UPB1)
[OMIM: Entry 606673](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606673)
Van Kuilenburg, A., Van Lenthe, H., Ratmann, G., Assmann, B., Hoffmann, G., Brautigam, C., Van Gennip, A. Purine and Pyrimidine Metabolism in Man. (2000) p. 243-246 X Kluwer Academic/Plenum.
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.100 Heilbronn: SPS Verlagsgesellschaft
van Kuilenburg AB, Meinsma R, Assman B, Hoffman GF, Voit T, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, Wevers RA, Rutsch F, van Gennip AH: Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency. Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1093-8. doi: 10.1080/15257770600956870.
Pubmed: 17065070
van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH: beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet. 2004 Nov 15;13(22):2793-801. doi: 10.1093/hmg/ddh303. Epub 2004 Sep 22.
Pubmed: 15385443
Pyrimidine Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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