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Pathway Description
Cystathionine beta-Synthase Deficiency
Homo sapiens
Disease Pathway
Cystathionine Beta-Synthase Deficiency (CBS Deficiency; Homocystinuria) is an autosomal recessive disease caused by a mutation in the CBS gene which codes for cystathionine beta-synthase. A deficiency in this enzyme results in accumulation of L-cystathionine, homocysteine, and L-homocystine in plasma and urine; and L-methionine and ornithine in plasma. Symptoms include osteoporosis, myopia, fatty-liver, mental retardation, and early death. Treatment includes folic acid, vitamin B6, vitamin B12, and a methionine-restricted diet.
References
Cystathionine beta-Synthase Deficiency References
[Uniprot: P35520](http://www.uniprot.org/uniprot/P35520)
[OMIM: Entry 236200](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=236200)
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.34 Heilbronn: SPS Verlagsgesellschaft
Kaeser AC, Rodnight R, Ellis BA: Psychiatric and biochemical aspects of a case of homocystinuria. J Neurol Neurosurg Psychiatry. 1969 Apr;32(2):88-93.
Pubmed: 5783298
Gallagher PM, Naughten E, Hanson NQ, Schwichtenberg K, Bignell M, Yuan M, Ward P, Yap S, Whitehead AS, Tsai MY: Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria. Mol Genet Metab. 1998 Dec;65(4):298-302. doi: 10.1006/mgme.1998.2771.
Pubmed: 9889017
Gaustadnes M, Wilcken B, Oliveriusova J, McGill J, Fletcher J, Kraus JP, Wilcken DE: The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. Hum Mutat. 2002 Aug;20(2):117-26. doi: 10.1002/humu.10104.
Pubmed: 12124992
Kluijtmans LA, Boers GH, Kraus JP, van den Heuvel LP, Cruysberg JR, Trijbels FJ, Blom HJ: The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. Am J Hum Genet. 1999 Jul;65(1):59-67. doi: 10.1086/302439.
Pubmed: 10364517
Komrower GM: Dietary treatment of homocystinuria. Am J Dis Child. 1967 Jan;113(1):98-100.
Pubmed: 6015916
Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M: Cystathionine beta-synthase mutations in homocystinuria. Hum Mutat. 1999;13(5):362-75. doi: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K.
Pubmed: 10338090
Kraus JP: Biochemistry and molecular genetics of cystathionine beta-synthase deficiency. Eur J Pediatr. 1998 Apr;157 Suppl 2:S50-3.
Pubmed: 9587026
Kruger WD: Cystathionine beta-synthase deficiency: Of mice and men. Mol Genet Metab. 2017 Jul;121(3):199-205. doi: 10.1016/j.ymgme.2017.05.011. Epub 2017 May 19.
Pubmed: 28583326
Methionine 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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