homocystinuria

Summary

Summary: Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)

Top Publications

  1. Janosik M, Sokolova J, Janosíková B, Krijt J, Klatovská V, Kozich V. Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene. J Pediatr. 2009;154:431-7 pubmed publisher
    ..To estimate the frequency of the cystathionine beta-synthase deficiency caused by c.1105C>T mutation in Central Europe compared to Norway, and to examine the pathogenicity of the corresponding p.R369C mutant enzyme...
  2. Linnebank M, Homberger A, Junker R, Nowak Goettl U, Harms E, Koch H. High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application. Thromb Haemost. 2001;85:986-8 pubmed
    Classical homocystinuria due to cystathionine beta-synthase deficiency is one of the disorders revealing a high risk of thromboembolic events and vascular disease...
  3. de Franchis R, Kraus E, Kozich V, Sebastio G, Kraus J. Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. Hum Mutat. 1999;13:453-7 pubmed
    b>Homocystinuria due to cystathionine beta-synthase (CBS) deficiency is frequently caused by missense mutations...
  4. Wang L, Chen X, Tang B, Hua X, Klein Szanto A, Kruger W. Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model. Hum Mol Genet. 2005;14:2201-8 pubmed
    ..These transgenic animals should be useful in the study of homocysteine related human disease...
  5. Sperandeo M, Candito M, Sebastio G, Rolland M, Turc Carel C, Giudicelli H, et al. Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations. J Inherit Metab Dis. 1996;19:351-6 pubmed
    ..These observations could explain the conflicting results reported for vascular pathologies in parents of homocystinuric patients and direct the search for genetic mutations in these vascular pathologies...
  6. Zoossmann Diskin A, Gazit E, Peleg L, Shohat M, Turner D. 844ins68 in the cystathionine beta-synthase gene in Israel and review of its distribution in the world. Anthropol Anz. 2004;62:147-55 pubmed
    ..Its use as a reliable anthropogenetic marker discriminating between the major human groups may also be problematic until more populations are sampled...
  7. Mafrici B. The contribution of low plasma taurine to clinical complications of Homocystinurea. Med Hypotheses. 2005;65:203-4 pubmed
  8. Rossi A, Cerone R, Biancheri R, Gatti R, Schiaffino M, Fonda C, et al. Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings. AJNR Am J Neuroradiol. 2001;22:554-63 pubmed
    Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of dietary cobalamin to methylcobalamin and adenosylcobalamin, resulting in decreased activity of methylmalonyl-CoA mutase and methionine ..
  9. Miles E, Kraus J. Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations. J Biol Chem. 2004;279:29871-4 pubmed
  10. Refsum H, Fredriksen A, Meyer K, Ueland P, Kase B. Birth prevalence of homocystinuria. J Pediatr. 2004;144:830-2 pubmed
    Serious complications of homocystinuria caused by cystathionine beta-synthase deficiency can be prevented by early intervention. We determined the prevalence of 6 specific mutations in 1133 newborn blood samples...

Detail Information

Publications62

  1. Janosik M, Sokolova J, Janosíková B, Krijt J, Klatovská V, Kozich V. Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene. J Pediatr. 2009;154:431-7 pubmed publisher
    ..To estimate the frequency of the cystathionine beta-synthase deficiency caused by c.1105C>T mutation in Central Europe compared to Norway, and to examine the pathogenicity of the corresponding p.R369C mutant enzyme...
  2. Linnebank M, Homberger A, Junker R, Nowak Goettl U, Harms E, Koch H. High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application. Thromb Haemost. 2001;85:986-8 pubmed
    Classical homocystinuria due to cystathionine beta-synthase deficiency is one of the disorders revealing a high risk of thromboembolic events and vascular disease...
  3. de Franchis R, Kraus E, Kozich V, Sebastio G, Kraus J. Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. Hum Mutat. 1999;13:453-7 pubmed
    b>Homocystinuria due to cystathionine beta-synthase (CBS) deficiency is frequently caused by missense mutations...
  4. Wang L, Chen X, Tang B, Hua X, Klein Szanto A, Kruger W. Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model. Hum Mol Genet. 2005;14:2201-8 pubmed
    ..These transgenic animals should be useful in the study of homocysteine related human disease...
  5. Sperandeo M, Candito M, Sebastio G, Rolland M, Turc Carel C, Giudicelli H, et al. Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations. J Inherit Metab Dis. 1996;19:351-6 pubmed
    ..These observations could explain the conflicting results reported for vascular pathologies in parents of homocystinuric patients and direct the search for genetic mutations in these vascular pathologies...
  6. Zoossmann Diskin A, Gazit E, Peleg L, Shohat M, Turner D. 844ins68 in the cystathionine beta-synthase gene in Israel and review of its distribution in the world. Anthropol Anz. 2004;62:147-55 pubmed
    ..Its use as a reliable anthropogenetic marker discriminating between the major human groups may also be problematic until more populations are sampled...
  7. Mafrici B. The contribution of low plasma taurine to clinical complications of Homocystinurea. Med Hypotheses. 2005;65:203-4 pubmed
  8. Rossi A, Cerone R, Biancheri R, Gatti R, Schiaffino M, Fonda C, et al. Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings. AJNR Am J Neuroradiol. 2001;22:554-63 pubmed
    Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of dietary cobalamin to methylcobalamin and adenosylcobalamin, resulting in decreased activity of methylmalonyl-CoA mutase and methionine ..
  9. Miles E, Kraus J. Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations. J Biol Chem. 2004;279:29871-4 pubmed
  10. Refsum H, Fredriksen A, Meyer K, Ueland P, Kase B. Birth prevalence of homocystinuria. J Pediatr. 2004;144:830-2 pubmed
    Serious complications of homocystinuria caused by cystathionine beta-synthase deficiency can be prevented by early intervention. We determined the prevalence of 6 specific mutations in 1133 newborn blood samples...
  11. Gordon R, Cox A, Dawson P, Emmerson B, Kraus J, Dudman N. 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. Hum Mutat. 1998;11:332 pubmed
    ..in the cystathionine beta-synthase (CBS) gene in two unrelated male patients with vitamin B6 nonresponsive homocystinuria. Both patients were compound heterozygotes for CBS alleles containing point mutations...
  12. Kim C, Gallagher P, Guttormsen A, Refsum H, Ueland P, Ose L, et al. Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria. Hum Mol Genet. 1997;6:2213-21 pubmed
    ..These studies show that the G797A mutation is an important cause of pyridoxine-responsive CBS deficiency and demonstrate the utility of yeast functional assays in the analysis of human mutations...
  13. Dawson P, Cox A, Emmerson B, Dudman N, Kraus J, Gordon R. Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria. Eur J Hum Genet. 1997;5:15-21 pubmed
    b>Homocystinuria, due to a deficiency of the enzyme cystathionine beta-synthase (CBS), is an inborn error of sulphur-amino acid metabolism...
  14. Chen X, Wang L, Fazlieva R, Kruger W. Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response. Hum Mutat. 2006;27:474-82 pubmed
    ..These mice have extremely elevated plasma homocysteine levels and do not respond significantly to large doses of pyridoxine. Our findings suggest that there may be multiple mechanisms involved in response to pyridoxine...
  15. Marble M, Geraghty M, de Franchis R, Kraus J, Valle D. Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria. Hum Mol Genet. 1994;3:1883-6 pubmed
    We used SSCP to survey reverse transcribed-PCR amplified cystathionine synthase cDNAs from patients with homocystinuria. In a single CBS allele, we identified one synonymous and two missense mutations in a portion of the cDNA encoded by a ..
  16. Singh L, Kruger W. Functional rescue of mutant human cystathionine beta-synthase by manipulation of Hsp26 and Hsp70 levels in Saccharomyces cerevisiae. J Biol Chem. 2009;284:4238-45 pubmed publisher
    ..Based on these results we propose a novel model in which the ratio of Hsp70 and Hsp26 determines whether misfolded proteins will either be refolded or degraded...
  17. Sokolova J, Janosikova B, Terwilliger J, Freiberger T, Kraus J, Kozich V. Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles. Hum Mutat. 2001;18:548-9 pubmed
    Recent reports suggested that homocystinuria due to cystathionine beta-synthase (CBS) deficiency is a more common inborn error of metabolism than originally thought...
  18. Bowron A, Barton A, Scott J, Stansbie D. Blood spot homocysteine: a feasibility and stability study. Clin Chem. 2005;51:257-8 pubmed
  19. Lee S, Lee D, Yoo H, Koo S, Park E, Park J, et al. Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. J Hum Genet. 2005;50:648-54 pubmed
    b>Homocystinuria is an autosomal recessive inborn error of metabolism that is most often caused by mutation in the cystathionine beta-synthase (CBS) gene...
  20. Sen S, Yu J, Yamanishi M, Schellhorn D, Banerjee R. Mapping peptides correlated with transmission of intrasteric inhibition and allosteric activation in human cystathionine beta-synthase. Biochemistry. 2005;44:14210-6 pubmed
    ..in the intracellular disposal of homocysteine and is the single most common locus of mutations associated with homocystinuria. Elevated levels of homocysteine are correlated with heart disease, Alzheimer's and Parkinson's diseases, and ..
  21. Yap S, Boers G, Wilcken B, Wilcken D, Brenton D, Lee P, et al. Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study. Arterioscler Thromb Vasc Biol. 2001;21:2080-5 pubmed
    An inborn error of metabolism, homocystinuria due to cystathionine beta-synthase deficiency, results in markedly elevated levels of circulating homocysteine. Premature vascular events are the main life-threatening complication...
  22. Skovby F, Gaustadnes M, Mudd S. A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. Mol Genet Metab. 2010;99:1-3 pubmed publisher
    ..that in Denmark and probably certain other European countries the number of individuals identified with homocystinuria due to homozygosity for the widespread c.833T>C (p...
  23. Hu F, Gu Z, Kozich V, Kraus J, Ramesh V, Shih V. Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. Hum Mol Genet. 1993;2:1857-60 pubmed
    ..All patients have pyridoxine nonresponsive homocystinuria. We have now observed this mutation in 9 of 52 apparently unrelated alleles of varied ethnic backgrounds...
  24. Sebastio G, Sperandeo M, Panico M, de Franchis R, Kraus J, Andria G. The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. Am J Hum Genet. 1995;56:1324-33 pubmed
    Four new mutations in the cystathionine beta-synthase (CBS) gene have been identified in Italian patients with homocystinuria. The first mutation is a G-to-A transition at base 374 in exon 3, causing an arginine-to-glutamic acid ..
  25. Shan X, Kruger W. Correction of disease-causing CBS mutations in yeast. Nat Genet. 1998;19:91-3 pubmed
    Mutations in cystathionine beta-synthase (CBS) are known to cause homocystinuria, a recessive disorder characterized by excessive levels of total homocysteine (tHcy) in plasma...
  26. Tsai A, Morel C, Scharer G, Yang M, Lerner Ellis J, Rosenblatt D, et al. Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. Am J Med Genet A. 2007;143A:2430-4 pubmed
    ..Hispanic woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC). Mutation analysis revealed c.271dupA and c.482G > A mutations in the MMACHC gene...
  27. de Franchis R, Kozich V, McInnes R, Kraus J. Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system. Hum Mol Genet. 1994;3:1103-8 pubmed
    ..molecular basis of cystathionine beta-synthase (CBS) deficiency in three siblings with pyridoxine responsive homocystinuria using a significantly improved mutation screening method in bacteria...
  28. Lawson Yuen A, Levy H. The use of betaine in the treatment of elevated homocysteine. Mol Genet Metab. 2006;88:201-7 pubmed
    Elevation of homocysteine is implicated in multiple medical conditions, including classical homocystinuria, a variety of remethylation disorders, and most recently in coronary artery disease...
  29. Kruger W, Cox D. A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene. Hum Mol Genet. 1995;4:1155-61 pubmed
    Mutations in the human cystathionine beta-synthase (CBS) gene are known to cause homocystinuria and may also be a significant risk factor for premature atherosclerosis...
  30. Lim J, Lee D. Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency. Osteoporos Int. 2013;24:2535-8 pubmed publisher
    b>Homocystinuria due to cystathionine ?-synthase (CBS) deficiency is an inherited disorder of the metabolism of methionine...
  31. Guttormsen A, Ueland P, Kruger W, Kim C, Ose L, Følling I, et al. Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype. Am J Med Genet. 2001;100:204-13 pubmed
    ..Abnormal tHcy response after methionine loading was the most sensitive test. Our data suggest that the urinary tHcy excretion rate is a simple, non-invasive approach for studying mild disturbances in Hcy metabolism...
  32. Kraus J, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo M, et al. Cystathionine beta-synthase mutations in homocystinuria. Hum Mutat. 1999;13:362-75 pubmed
    The major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine beta-synthase (CBS)...
  33. Krijt J, Kopecká J, Hnizda A, Moat S, Kluijtmans L, Mayne P, et al. Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency. J Inherit Metab Dis. 2011;34:49-55 pubmed publisher
    ..CBS assay in human plasma brings new possibilities in the diagnosis of pyridoxine nonresponsive CBS deficiency...
  34. Meier M, Oliveriusova J, Kraus J, Burkhard P. Structural insights into mutations of cystathionine beta-synthase. Biochim Biophys Acta. 2003;1647:206-13 pubmed
    ..Deficiency of CBS leads to homocystinuria, an inherited disease of sulfur amino acid metabolism characterised by increased levels of homocysteine and ..
  35. Linnebank M, Homberger A, Kraus J, Harms E, Kozich V, Koch H. Haplotyping of wild type and I278T alleles of the human cystathionine beta-synthase gene based on a cluster of novel SNPs in IVS12. Hum Mutat. 2001;17:350-1 pubmed
    b>Homocystinuria is most frequently due to deficiency of cystathionine beta-synthase (CBS). We identified IVS12 as a polymorphism hot spot of the human CBS gene and report five novel single nucleotide polymorphisms (SNPs): g.13514G>A, g...
  36. Kruger W, Wang L, Jhee K, Singh R, Elsas L. Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. Hum Mutat. 2003;22:434-41 pubmed
    ..CBS) deficiency is a rare autosomal recessive disorder that is the most frequent cause of clinical homocystinuria. Patients not treated in infancy have multi-systems disorders including dislocated lenses, mental deficiency, ..
  37. Leclerc D, Wilson A, Dumas R, Gafuik C, Song D, Watkins D, et al. Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Proc Natl Acad Sci U S A. 1998;95:3059-64 pubmed
    ..The cloning of the cDNA will permit the diagnostic characterization of cblE patients and investigation of the potential role of polymorphisms of this enzyme as a risk factor in hyperhomocysteinemia-linked vascular disease...
  38. Zavadakova P, Fowler B, Suormala T, Novotna Z, Mueller P, Hennermann J, et al. cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. Hum Mutat. 2005;25:239-47 pubmed
    The cblE type of homocystinuria is a rare autosomal recessive disorder caused by impaired reductive activation of methionine synthase...
  39. Wilcken D, Wilcken B. The natural history of vascular disease in homocystinuria and the effects of treatment. J Inherit Metab Dis. 1997;20:295-300 pubmed
    Among 40 patients with homocystinuria due to cystathionine beta-synthase deficiency diagnosed in the state of New South Wales, Australia (population 6 million) and followed long-term, there were 10 deaths at ages 2-30 years...
  40. Schwahn B, Hafner D, Hohlfeld T, Balkenhol N, Laryea M, Wendel U. Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria. Br J Clin Pharmacol. 2003;55:6-13 pubmed
    ..We studied the pharmacokinetics of betaine and its metabolite dimethylglycine (DMG) in healthy subjects and in three patients with homocystinuria.
  41. Gaustadnes M, Wilcken B, Oliveriusova J, McGill J, Fletcher J, Kraus J, et al. The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. Hum Mutat. 2002;20:117-26 pubmed
    Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria. It is inherited as an autosomal recessive trait and common clinical features are: dislocation of the optic lens, osteoporosis, mental retardation, ..
  42. Shan X, Dunbrack R, Christopher S, Kruger W. Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis. Hum Mol Genet. 2001;10:635-43 pubmed
    ..Mutations in CBS are known to cause homocystinuria, an inborn error in metabolism...
  43. Heil S, Riksen N, Boers G, Smulders Y, Blom H. DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients. Mol Genet Metab. 2007;91:55-60 pubmed
    ..is an inborn error of metabolism that is biochemically characterized by severe hyperhomocysteinemia and homocystinuria. In tissues of mice deficient for CBS it has been demonstrated that global DNA methylation and DNA methylation ..
  44. Kozich V, de Franchis R, Kraus J. Molecular defect in a patient with pyridoxine-responsive homocystinuria. Hum Mol Genet. 1993;2:815-6 pubmed
  45. Janosik M, Oliveriusova J, Janosikova B, Sokolova J, Kraus E, Kraus J, et al. Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. Am J Hum Genet. 2001;68:1506-13 pubmed
    ..The clinical manifestation was typical of homocystinuria, and about half of the 21 patients were not responsive to pyridoxine...
  46. Christopher S, Melnyk S, James S, Kruger W. S-adenosylhomocysteine, but not homocysteine, is toxic to yeast lacking cystathionine beta-synthase. Mol Genet Metab. 2002;75:335-43 pubmed
    ..We hypothesize that elevated extracellular homocysteine present in humans may reflect an altered intracellular SAM/SAH ratio and that this may be related to disease pathogenesis...
  47. Lerner Ellis J, Tirone J, Pawelek P, Dore C, Atkinson J, Watkins D, et al. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet. 2006;38:93-100 pubmed
    Methylmalonic aciduria and homocystinuria, cblC type (OMIM 277400), is the most common inborn error of vitamin B(12) (cobalamin) metabolism, with about 250 known cases...
  48. Katsushima F, Oliveriusova J, Sakamoto O, Ohura T, Kondo Y, Iinuma K, et al. Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria. Mol Genet Metab. 2006;87:323-8 pubmed
    Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria. More than 130 pathogenic mutations, mostly in the Caucasian populations, have been described...
  49. Orendác M, Zeman J, Stabler S, Allen R, Kraus J, Bodamer O, et al. Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. J Inherit Metab Dis. 2003;26:761-73 pubmed
    ..We propose that the finding of low plasma serine concentration in untreated CBS-deficient patients merits further exploration since supplementation with serine might be a novel and safe component of treatment of homocystinuria.
  50. Kozich V, Kraus J. Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. Hum Mutat. 1992;1:113-23 pubmed
    Deficiency of cystathionine beta-synthase (CBS) causes the most common form of inherited homocystinuria. We developed a simple CBS expression system in E. coli to screen for pathogenic mutations in affected individuals...
  51. Moat S, Bao L, Fowler B, Bonham J, Walter J, Kraus J. The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria. Hum Mutat. 2004;23:206 pubmed
    ..The spectrum of mutations observed in the patients from the UK and US is closer to that which is observed in Northern Europe and bears less resemblance to that observed in Ireland...
  52. Coelho D, Suormala T, Stucki M, Lerner Ellis J, Rosenblatt D, Newbold R, et al. Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med. 2008;358:1454-64 pubmed publisher
    ..One of these defects, the cblD defect, can cause isolated methylmalonic aciduria, isolated homocystinuria, or both...
  53. Kluijtmans L, Boers G, Stevens E, Renier W, Kraus J, Trijbels F, et al. Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. J Clin Invest. 1996;98:285-9 pubmed
    ..the molecular basis of cystathionine beta-synthase (CBS) deficiency in a partially pyridoxine-responsive homocystinuria patient. Direct sequencing of the entire CBS cDNA revealed the presence of a homozygous G1330A transition...
  54. Gherasim C, Rosenblatt D, Banerjee R. Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation. Hum Mutat. 2007;28:1028-33 pubmed
    ..of the cblE class of inborn errors of cobalamin metabolism that is characterized by megaloblastic anemia and homocystinuria. Two highly prevalent SNPs, c.66A>G (p.Ile22Met) and c.524C>T (p.Ser175Leu), are found in the MTRR gene...
  55. Lin N, Niu D, Loong C, Hsia C, Tsai H, Yeh Y, et al. Liver transplantation for a patient with homocystinuria. Pediatr Transplant. 2012;16:E311-4 pubmed publisher
  56. Smith A, Su Y, Stevens D, Majtan T, Kraus J, Burstyn J. Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine ?-synthase. Biochemistry. 2012;51:6360-70 pubmed
  57. Salvi F, Gadda G. Human choline dehydrogenase: medical promises and biochemical challenges. Arch Biochem Biophys. 2013;537:243-52 pubmed publisher
  58. Cornec Le Gall E, Delmas Y, de Parscau L, Doucet L, Ogier H, Benoist J, et al. Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency. Am J Kidney Dis. 2014;63:119-23 pubmed publisher
    ..MMACHC (methylmalonic aciduria and homocystinuria type C protein) sequencing revealed compound heterozygosity for 2 causative mutations...
  59. Jadavji N, Deng L, Leclerc D, Malysheva O, Bedell B, Caudill M, et al. Severe methylenetetrahydrofolate reductase deficiency in mice results in behavioral anomalies with morphological and biochemical changes in hippocampus. Mol Genet Metab. 2012;106:149-59 pubmed publisher
    ..Neurological disturbances have been described in homocystinuria caused by severe MTHFR deficiency...
  60. Urreizti R, Moya García A, Pino Angeles A, Cozar M, Langkilde A, Fanhoe U, et al. Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. Clin Genet. 2010;78:441-8 pubmed publisher
    ..Five patients suspected of having non-classical homocystinuria due to MTHFR deficiency were examined with respect to their symptoms, MTHFR enzyme activity and genotypes of ..
  61. Rodrigues A, Trivedi R, Wilson M. Subluxation of the crystalline lens: a no-ring approach. J Pediatr Ophthalmol Strabismus. 2012;49:157-63 pubmed publisher
    ..To report the surgical technique and outcomes of a no-ring approach to posterior chamber intraocular lens (IOL) implantation in children and young adults with subluxation of the crystalline lens...
  62. Cleophas T, Hornstra N, van Hoogstraten B, Van der Meulen J. Homocysteine, a risk factor for coronary artery disease or not? A meta-analysis. Am J Cardiol. 2000;86:1005-9, A8 pubmed
    ..At the same time, however, homocysteine may be an indicator for unhealthy lifestyles, and therefore, an important variable for cardiologists to take into account when assessing coronary artery disease...