Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: Utility and limitations in diagnosing the cause of puzzling thrombophilia in a family

JIMD Reports

Volumn 11, Issue , 2013, Pages 149-163

  Stabler, Sally P ^a   Korson, Mark ^b   Jethva, Reena ^c   Allen, Robert H ^a   Kraus, Jan P ^d   Spector, Elaine B ^d   Wagner, Conrad ^e   Mudd, S Harvey ^f  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^b TUFTS MEDICAL CENTER   (United States)

^c ST CHRISTOPHER'S HOSPITAL FOR CHILDREN   (United States)

^d University of Colorado Denver and Children s Hospital Colorado   (United States)

^e VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

Author keywords

Case family; Cobalamin deficiency; Compound heterozygote; Methylmalonic acid; Pyridoxal phosphate

Indexed keywords

EID: 84907321093     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2013_235     Document Type: Chapter

References (49)

1. Allen RH, Stabler SP, Lindenbaum J (1993) Serum betaine, N, N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism. Metabolism 42:1448–1460
2. Bermúndez M, Frank N, Bernal J, Urreizti R, Briceño I, Begoña M, Perez-CerdÄ C, Ugarte M, Grinberg D, Balcells S, Kraus JP (2006) High prevalence of CBS p.T191M mutation in homocystinuric patients from Columbia. Hum Mutat 27:296–302
3. Capdevila A, Wagner C (1998) Measurement of plasma S-adenosylmethionine and S-adenosylhomocysteine as their fluorescent isoindoles. Anal Biochem 264:180–184
4. Chauveheid M-P, Lidove O, Papo T, Laissy J-P (2008) Adult-inset homocystinuria arteriography mimics fibromuscular dysplasia. Am J Med 121:e5–e6
5. Cochran FB, Sweetman L, Schmidt K, Barsh G, Kraus J, Packman S (1990) Pyridoxine-unresponsive homocystinuria with an unusual clinical course. Am J Med Genet 35:519–522
6. Cozar M, Urreizti R, Vilarinho L, Grosso C, Dodelson de Kremer R, Asteggiano CG, Dalmau J, Garcia AM, Vilaseca MA, Grinberg D, Balcells S (2011) Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. Hum Mutat 32:835–842
7. de Franchis R, Sperandeo MP, Sebastio G, Andria G, The Italian Collaborative Study Group on Homocystinuria (1998) Clinical aspects of cystathionine β-synthase deficiency: how wide is the spectrum? Eur J Pediatr 157(Suppl 2):S67–S70
8. Ducros V, Rousset J, Garambois K, Boujet C, Rolland MO, Valenti K, Bouillet L, Jaillard A, Favier A (2006) Severe hypermethioninemia revealing homocystinuria in two young adults with mild phenotype. Revue de Medécine Interne 27:140–143
9. Favre JP, Becker F, Lorcerie B, Dumas R, David M (1992) Vascular manifestations in homocystinuria. Ann Vasc Surg 6:294–297
10. Gan-Schreier H, Kebbewar M, Fang-Hoffman J, Wilrich J, Abdoh G, Ben-Omran T, Shahbek N, Bener A, Al Rifai H, Al Khal AL, Lindner M, Zschocke J, Hoffman GF (2010) Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards. J Pediatr 156:427–432
11. Gaustadnes M, Ingerslev J, Röutiger N (1999) Prevalence of congenital homocystinuria in Denmark. N Engl J Med 340:1513
12. Gaustadnes M, Röudiger N, Rasmussen K, Ingerslev J (2000a) Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants. Thromb Haemost 83:554–558
13. Gaustadnes M, Röudiger N, Rasmussen K, Ingerslev J (2000b) Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-C mutation. Arterioscler Thromb Vasc Biol 20:1392–1395
14. Gaustadnes M, Wilcken B, Oliveriusova J, McGill J, Fletcher J, Kraus JP, Wilcken DEL (2002) The molecular basis of cystathionine β-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. Hum Mutation 20:117–126
15. Guerra-Shinohara EM, Morita OE, Pagliusi RA, Blaia-d'Avila VL, Allen RH, Stabler SP (2007) Elevated serum S-adenosylhomocysteine in cobalamin-deficient megaloblastic anemia. Metabolism 56:339–347
16. Janosík M, SokolovÄ J, JanosíkovÄ B, Krijt J, KlatovskÄ V, Kozich V (2009) 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 154:431–437
17. Kanzelmeyer N, Tsikas D, Chobanyan-Jöurgens K, Beckmann B, Vaske B, Illsinger S, Das AM, Löucke T (2011) Asymmetric dimethyhlarginine in children with homocystinuria or phenylke-tonuria. Amino Acids. doi: 10.1007/s00726-011-0892-4
18. Keating AK, Freehauf C, Jiang H, Brodsky GL, Stabler SP, Allen RH, Graham DK, Thomas JA, Van Hove JLK, Maclean KN (2011) Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria. Mol Genet Metab 103:330–337
19. Kelly PJ, Furie KL, Kistler JP, Barron M, Picard EH, Mandell R, Shih VE (2003) Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency. Neurology 60:275–279
20. Kluijtmans LAJ, Boers GHJ, Kraus JP, van den Heuvel LPWJ, Cruysberg JRM, Trijbels FJM, Blom HJ (1999) The molecular basis of cystathionine β-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 65:59–67
21. Linnebank M, Junker R, Nabavi DG, Linnebank A, Koch HG (2003) Isolated thrombosis due to the cystathionine β-synthase mutation c.833T>C (I278T). J Inherit Metab Dis 26:509–511
22. Lu C-Y, Hou J-W, Wang P-J, Chiu H-H, Wang T-R (1996) Homocystinuria presenting as fatal common carotid artery occlusion. Pediatr Neurol 15:159–162
23. Maclean KN, Gaustadnes M, Oliveriusova J, Janosik M, Kraus E, Kozich V, Kery V, Skovby F, Röudiger N, Ingerslev J, Stabler SP, Allen RH, Kraus JP (2002) High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine β-synthase (CBS) mutations. Hum Mutation 19:641–655
24. Magner M, KrupkovÄ L, Honzik T, Zeman J, HyÄnek J, Kozich V (2011) Vascular presentation of cystathionine beta-synthase deficiency in adulthood. J Inherit Metab Dis 34:33–37
25. Majtan T, Liu L, Carpenter JF, Kraus JP (2010) Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes. J Biol Chem 285:15866–15873
26. Marchal G, Giroud M, Nivelon A, Saudubray JM, Becker F, Martin F, Dumas R (1989) Révélation tardive d’une homocystinurie par une aphasie et un spasme des artères iliaques externes. Ann Med Interne 140:520–522
27. Mudd SH (2011) Hypermethioninemias of genetic and non-genetic origin: a review. Am J Med Genet Part C 157:3–32
28. Mudd SH, Skovby F, Levy HL, Pettigrew KD, Wilcken B, Pyeritz RE, Andria G, Boers GHJ, Bromberg IL, Cerone R, Fowler B, Grobe H, Schmidt H, Schweitzer L (1985) The natural history of homocystinuria due to cystathionine β-synthase deficiency. Am J Hum Genet 37:1–31
29. Mudd SH, Cerone R, Schiaffino MC et al (2001) Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninemia. J Inherit Metab Dis 24:448–464
30. Newman G, Mitchell JRA (1984) Homocystinuria presenting as multiple arterial occlusions. Q J Med 210:251–258
31. Novy J, Ballhausen D, Bonafé L, Cairoli A, Angelillo-Scherrer A, Bachmann C, Michel P (2010) Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine beta-synthase deficiency. Thromb Haemost 103:871–873
32. Orendöac M, Zeman J, Stabler SP, Allen RH, Kraus JP, Bodamer O, Stöckler-Ipsiroglu S, Kvasnicka J, Kožich V (2003) Homocystinuria due to cystathionine β-synthase deficiency: novel biochemical findings and treatment efficacy. J Inherit Metab Dis 26:761–773
33. Peterschmitt MJ, Simmons JR, Levy HL (1999) Reduction of false negative results in screening of newborns for homocystinuria. N Engl J Med 341:1572–1576
34. Refsum H, Fredriksen A, Meyer K, Ueland PM, Kase BF (2004) Birth prevalence of homocystinuria. J Pediatr 144:830–832
35. 12 deficiency is the primary cause of megaloblastic anaemia in Zimbabwe. Br J Haematol 86:844–850
36. Skovby F, Gaustadnes M, Mudd SH (2010) A revisit to the natural history of homocystinuria due to cystathionine β-synthase deficiency. Mol Genet Metab 99:1–3
37. Sokolova J, Janosikova B, Terwilliger JD, Freiberger T, Kraus JP, Kozich V (2001) Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles. Hum Mutation 18:548–549
38. Stabler SP, Allen RH (2004) Quantification of serum and urinary S-adenosylmethionine and S-adenosylhomocysteine by stable-isotope-dilution liquid chromatography-mass spectrometry. Clin Chem 50:365–372
39. Stabler SP, Marcell PD, Podell ER, Allen RH, Savage DG, Lindenbaum J (1988) Elevation of total homocysteine in the serum of patients with cobalamin or folate deficiency detected by capillary gas chromatography–mass spectrometry. J Clin Invest 81:466–474
40. Stabler SP, Lindenbaum J, Savage DG, Allen RH (1993) Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency. Blood 81:3404–3413
41. Stabler SP, Steegborn C, Wahl MC, Oliveriusova J, Kraus JP, Allen RH, Wagner C, Mudd SH (2002) Elevated plasma total homocysteine in severe MAT I/III deficiency. Metabolism 51:981–988
42. Strauss KA, Morton DH, Puffenberger EG, Hendrickson C, Robinson DL, Wagner C, Stabler SP, Allen RH, Chwatko G, Jakubowski H, Niculescu MD, Mudd SH (2007) Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency. Mol Genet Metab 91:165–175
43. Sueyoshi E, Sakamoto I, Ashizawa K, Hayashi K (2004) Pulmonary and lower extremity vascular lesions in a patient with homocystinuria: radiologic findings. Am J Radiology 182:830–831
44. Tangerman A, Mudd SH, Wilcken B, Boers GHJ, Levy HL (2000) Methionine transamination metabolites in patients with homocystinuria due to cystathionine β-synthase deficiency. Metabolism 49:1071–1077
45. Varlibas F, Cobanoglu O, Ergin B, Tireli H (2009) Different phenotypy in three siblings with homocystinuria. Neurologist 15:144–146
46. Weiss N, Demeret S, Sonneville R, Guillevin R, Bolgert F, Pierrot-Deseilligny C (2006) Bilateral internal carotid artery dissection in cystathionine beta-synthase deficiency. Eur Neurol 55:177–178
47. Wilcken DEL, Wang J, Sim AS, Green K, Wilcken B (2006) Asymmetric dimethylarginine in homocystinuria due to cystathionine β-synthase deficiency: Relevance of renal function. J Inherit Metab Dis 29:30–37
48. Yaghmai R, Kashani AH, Geraghty MT, Okoh J, Pomper M, Tangerman A, Wagner C, Stabler SP, Allen RH, Mudd SH, Braverman N (2002) Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine β-synthase (CBS) deficiency. Am J Med Genet 108:57–63
49. Yap S, Boers GHJ, Wilcken B, Wilcken DEL, Brenton DP, Lee PJ, Walter JH, Howard PM, Naughten ER (2001) Vascular outcome in patients with homocystinuria due to cystathionine β-synthase deficiency treated chronically. A multicenter observational study. Arterioscler Thromb Vasc Biol 21:2080–2085