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Disease relevance of Homocystinuria


Psychiatry related information on Homocystinuria


High impact information on Homocystinuria

  • Homocystinuria due to cystathionine beta-synthase deficiency was confirmed by quantitative amino acid analyses [9].
  • Mutations in cystathionine beta-synthase (CBS) are known to cause homocystinuria, a recessive disorder characterized by excessive levels of total homocysteine (tHcy) in plasma [10].
  • We determined activated partial-thromboplastin times in the presence and absence of activated protein C and tested for the factor V Leiden mutation in 45 members of seven unrelated consanguineous kindreds in which at least 1 member was homozygous for homocystinuria [2].
  • Premature arteriosclerosis and thromboembolic events are well-known complications of homozygous homocystinuria due to cystathionine synthase deficiency [11].
  • Betaine in the treatment of homocystinuria [12].

Chemical compound and disease context of Homocystinuria


Biological context of Homocystinuria


Anatomical context of Homocystinuria


Gene context of Homocystinuria

  • Patients with an autosomal recessive severe deficiency of MTHFR have homocystinuria and a wide range of neurological and vascular disturbances [25].
  • Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria [26].
  • Homocysteine, one of the substrates of CBS, is known to accumulate in homocystinuria and is metabolized to homocysteate and homocysteine sulphinate, both known to be powerful excitotoxic amino acids [22].
  • Our study expands the knowledge of the phenotypic and genotypic variability of the cblE type of homocystinuria and supports the concept that this disorder is caused by mutations in the MTRR gene [27].
  • Severe MTHFR deficiency results in homocystinuria, an inborn error of metabolism with neurological and vascular complications [28].

Analytical, diagnostic and therapeutic context of Homocystinuria


  1. A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. Higginbottom, M.C., Sweetman, L., Nyhan, W.L. N. Engl. J. Med. (1978) [Pubmed]
  2. Coexistence of hereditary homocystinuria and factor V Leiden--effect on thrombosis. Mandel, H., Brenner, B., Berant, M., Rosenberg, N., Lanir, N., Jakobs, C., Fowler, B., Seligsohn, U. N. Engl. J. Med. (1996) [Pubmed]
  3. Neurotoxicity associated with dual actions of homocysteine at the N-methyl-D-aspartate receptor. Lipton, S.A., Kim, W.K., Choi, Y.B., Kumar, S., D'Emilia, D.M., Rayudu, P.V., Arnelle, D.R., Stamler, J.S. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  4. Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency. Reish, O., Townsend, D., Berry, S.A., Tsai, M.Y., King, R.A. Am. J. Hum. Genet. (1995) [Pubmed]
  5. Mechanisms of homocysteine toxicity on connective tissues: implications for the morbidity of aging. Krumdieck, C.L., Prince, C.W. J. Nutr. (2000) [Pubmed]
  6. An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria. Matthews, A., Johnson, T.N., Rostami-Hodjegan, A., Chakrapani, A., Wraith, J.E., Moat, S.J., Bonham, J.R., Tucker, G.T. British journal of clinical pharmacology. (2002) [Pubmed]
  7. Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review. Harding, C.O., Arnold, G., Barness, L.A., Wolff, J.A., Rosenblatt, D.S. Am. J. Med. Genet. (1997) [Pubmed]
  8. Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre. Ozand, P.T., Devol, E.B., Gascon, G.G. J. Child Neurol. (1992) [Pubmed]
  9. Reduction of false negative results in screening of newborns for homocystinuria. Peterschmitt, M.J., Simmons, J.R., Levy, H.L. N. Engl. J. Med. (1999) [Pubmed]
  10. Correction of disease-causing CBS mutations in yeast. Shan, X., Kruger, W.D. Nat. Genet. (1998) [Pubmed]
  11. Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease. Boers, G.H., Smals, A.G., Trijbels, F.J., Fowler, B., Bakkeren, J.A., Schoonderwaldt, H.C., Kleijer, W.J., Kloppenborg, P.W. N. Engl. J. Med. (1985) [Pubmed]
  12. Betaine in the treatment of homocystinuria. Benevenga, N.J. N. Engl. J. Med. (1984) [Pubmed]
  13. Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine. Wilcken, D.E., Wilcken, B., Dudman, N.P., Tyrrell, P.A. N. Engl. J. Med. (1983) [Pubmed]
  14. Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity. Freeman, J.M., Finkelstein, J.D., Mudd, S.H. N. Engl. J. Med. (1975) [Pubmed]
  15. 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. Kluijtmans, L.A., Boers, G.H., Kraus, J.P., van den Heuvel, L.P., Cruysberg, J.R., Trijbels, F.J., Blom, H.J. Am. J. Hum. Genet. (1999) [Pubmed]
  16. Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system. de Franchis, R., Kozich, V., McInnes, R.R., Kraus, J.P. Hum. Mol. Genet. (1994) [Pubmed]
  17. Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria. Marble, M., Geraghty, M.T., de Franchis, R., Kraus, J.P., Valle, D. Hum. Mol. Genet. (1994) [Pubmed]
  18. Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. de Franchis, R., Kraus, E., Kozich, V., Sebastio, G., Kraus, J.P. Hum. Mutat. (1999) [Pubmed]
  19. Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online. Gordon, R.B., Cox, A.J., Dawson, P.A., Emmerson, B.T., Kraus, J.P., Dudman, N.P. Hum. Mutat. (1998) [Pubmed]
  20. Affinity of cystathionine beta-synthase for pyridoxal 5'-phosphate in cultured cells. A mechanism for pyridoxine-responsive homocystinuria. Lipson, M.H., Kraus, J., Rosenberg, L.E. J. Clin. Invest. (1980) [Pubmed]
  21. Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency. Skovby, F., Kraus, J., Redlich, C., Rosenberg, L.E. Am. J. Hum. Genet. (1982) [Pubmed]
  22. Huntingtin interacts with cystathionine beta-synthase. Boutell, J.M., Wood, J.D., Harper, P.S., Jones, A.L. Hum. Mol. Genet. (1998) [Pubmed]
  23. Studies on the cellular basis of atherosclerosis: the effects of atherosclerosis risk factors on platelets and the vascular endothelium. Wall, R.T., Rubenstein, M.D., Cooper, S.L. Diabetes (1981) [Pubmed]
  24. Premature carotid atherosclerosis: does it occur in both familial hypercholesterolemia and homocystinuria? Ultrasound assessment of arterial intima-media thickness and blood flow velocity. Rubba, P., Mercuri, M., Faccenda, F., Iannuzzi, A., Irace, C., Strisciuglio, P., Gnasso, A., Tang, R., Andria, G., Bond, M.G. Stroke (1994) [Pubmed]
  25. Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. Goyette, P., Frosst, P., Rosenblatt, D.S., Rozen, R. Am. J. Hum. Genet. (1995) [Pubmed]
  26. Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Leclerc, D., Wilson, A., Dumas, R., Gafuik, C., Song, D., Watkins, D., Heng, H.H., Rommens, J.M., Scherer, S.W., Rosenblatt, D.S., Gravel, R.A. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  27. CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. Zavadakova, P., Fowler, B., Zeman, J., Suormala, T., Pristoupilová, K., Kozich, V., Zavad'áková, P. J. Inherit. Metab. Dis. (2002) [Pubmed]
  28. Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. Chen, Z., Karaplis, A.C., Ackerman, S.L., Pogribny, I.P., Melnyk, S., Lussier-Cacan, S., Chen, M.F., Pai, A., John, S.W., Smith, R.S., Bottiglieri, T., Bagley, P., Selhub, J., Rudnicki, M.A., James, S.J., Rozen, R. Hum. Mol. Genet. (2001) [Pubmed]
  29. Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. Levy, H.L., Vargas, J.E., Waisbren, S.E., Kurczynski, T.W., Roeder, E.R., Schwartz, R.S., Rosengren, S., Prasad, C., Greenberg, C.R., Gilfix, B.M., MacGregor, D., Shih, V.E., Bao, L., Kraus, J.P. J. Inherit. Metab. Dis. (2002) [Pubmed]
  30. Determination of total homocysteine in dried blood spots using high performance liquid chromatography for homocystinuria newborn screening. Febriani, A.D., Sakamoto, A., Ono, H., Sakura, N., Ueda, K., Yoshii, C., Kubota, M., Yanagawa, J. Pediatrics international : official journal of the Japan Pediatric Society. (2004) [Pubmed]
  31. General anesthesia for patient with type III homocystinuria (tetrahydrofolate reductase deficiency). Yamada, T., Hamada, H., Mochizuki, S., Sutoh, M., Tsuji, M., Kawamoto, M., Yuge, O. Journal of clinical anesthesia. (2005) [Pubmed]
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