An adult case of homocystinuria probably due to methylenetetrahydrofolate-reductase deficiency - Treatment with folic acid and the course of coagulation-fibrinolysis parameters

Clinical Neurology

Volumn 36, Issue 2, 1996, Pages 330-335

  Hamano, H ^a   Nanba, A ^a   Nagayama, M ^a   Takizawa, S ^a   Shinohara, Y ^a  

^a TOKAI UNIVERSITY   (Japan)

Author keywords

Folic acid; Homocystinuria; Methylenetetrahydrofolate reductase deficiency; Spastic paraplegia; Thrombin antithrombin iii complex

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ANTITHROMBIN III; COBALAMIN; CYSTATHIONINE; FOLIC ACID; METHIONINE; PYRIDOXINE; THROMBIN;

ADULT; ARTICLE; BLOOD CLOTTING; CASE REPORT; CLINICAL FEATURE; ENZYME DEFICIENCY; FIBRINOLYSIS; HOMOCYSTINURIA; HUMAN; MALE; SPASTIC PARAPLEGIA;

ADULT; ANTITHROMBIN III; BLOOD COAGULATION; FIBRIN FIBRINOGEN DEGRADATION PRODUCTS; FOLIC ACID; HOMOCYSTINE; HOMOCYSTINURIA; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; PARAPLEGIA; PEPTIDE HYDROLASES;

EID: 0029889387     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (30)

1. Mudd SH, Levy HL, Skovby F : Disorders of transsulfuration. In The metabolic molecular bases of inherited disease I, 7th ed, ed by Scriver CR, Beaudet AL, Sly WS, et al, McGraw-Hill, New York, 1995, pp1279-1327
2. Rosenblatt DS : Inherited disorders of folate transport and metabolism. In The metabolic and molecular bases of inherited disease II. 7th ed, ed by Scriver CR, Beaudet AL, Sly WS, et al, McGraw-Hill, New York, 1995, pp3111-3128
3. Pasquier F, Lebert F, Petit H, et al : Methylenetetra-hydrofolate reductase deficiency revealed by a neuropathy in a psychotic adult J Neurol Neurosurg Psychiatry 57 : 765-766, 1994
4. Coull BM, Malinow MR, Beamer N, et al : Elevated plasma homocyst(e)ine concentration as a possible independent risk factor for stroke. Stroke 21 : 572-576, 1990
5. Narisawa K, Wada Y, Saito T, et al : Infantile type of homocystinuria with N5, 10-methylenetetrahydrofolate reductase defect. Tohoku J Exp Med 121 : 185-194, 1977
6. Nishimura M, Yoshino K, Tomita Y, et al : Central and peripheral nervous system pathology of homocystinuria due to 5, 10-methylenetetrahydrofolate reductase deficiency. Pediatr Neurol 1: 375-378, 1985
7. Kishi T, Kawamura I, Harada Y, et al : Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy. J Inherit Metab Dis 17 : 560-565, 1994
8. Goyette P, Frosst P, Rosenblatt DS, et al: Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. Am J Hum Genet 56 : 1052-1059, 1995
9. Clayton PT, Smith I, Harding B, et al: Subacute combined degeneration of the cord, dementia and Parkinsonism due to an inborn error of folate metabolism. J Neurol Neurosurg Psychiatry 49 : 920-927, 1986
10. Hyland K, Smith I, Bottiglieri T, et al : Demyelination and decreased S-adenosylmethionine in 5, 10-methylenetetrahydrofolate reductase deficiency. Neurology 38 : 459-462, 1988
11. Surtees R, Leonard J, Austin S : Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyltransfer pathway Lancet 338 : 1550-1554, 1991
12. Walk D, Kang SS, Horwitz A : Intermittent encephalopathy, reversible nerve conduction slowing, and MRI evidence of cerebral white matter disease in methylenetetrahydrofolate reductase deficiency. Neurology 44 : 344-347, 1994
13. Starkebaum G, Harlan JM: Endothelial cell injury due to copper-catalyzed hydrogen peroxide generation from homocysteine J Clin Invest 77 : 1370-1376, 1986
14. Harpel PC, Chang VT, Borth W : Homocysteine and other sulfhydryl compounds enhance the binding of lipoprotein (a) to fibrin : a potential biochemical link between thrombosis, atherogenesis and sulfhydryl compound metabolism. Proc Natl Acad Sci 89 : 10193-10197, 1992
15. Rodgers GM, Conn MT : Homocysteine, an atherogenic stimulus, reduces protein C activation by arterial and venous endothelial cells. Blood 75 : 895-901, 1990
16. Lentz SR, Sadler JE: Inhibition of thrombomodulin surface expression and protein C activation by the thrombogenic agent homocysteine. J Clin Invest 88 : 1906-1914, 1991
17. Hayashi T, Honda G, Suzuki K : An atherogenic stimulus homocysteine inhibits cofactor activity of thrombomodulin and enhances thrombomodulin expression in human umbilical vein endothelial cells. Blood 79 : 2930-2936, 1992
18. Nishinaga M, Ozawa T, Shimada K : Homocysteine, a thrombogenic agent, suppresses anticoagulant heparan sulfate expression in cultured porcine aortic endothelial cells. J Clin Invest 92 : 1381-1386, 1993
19. Brattstrom LE, Hardebo JE, Hultberg BL : Moderate homocysteinemia - a possible risk factor for arteriosclerotic cerebrovascular disease. Stroke 15 : 1012-1016, 1984
20. Malinow MR : Hyperhomocyst(e)inemia. A common and easily reversible risk factor for occlusive atherosclerosis. Circulation 81 : 2004-2006, 1990
21. Clarke R, Daly L, Robinson K, et al : Hyperhomocysteinemia : an independent risk factor for vascular disease. N Engl J Med 324 : 1149-1155, 1991
22. Bienvenu T, Ankri A, Chadefaux B, et al : Elevated total plasma homocysteine, a risk factor for thrombosis. Relation to coagulation and fibrinolytic parameters. Thromb Res 70 : 123-129, 1993
23. Berg M, Knaap MS, Boers GHJ, et al : Hyperhomocysteinaemia ; with reference to its neuroradiological aspects. Neuroradiology 37 : 403-411, 1995
24. Freeman JM, Finkelstein JD, Mudd SH : Folateresponsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5, 10-methylenetetrahydrofolate reduetase activity. N Engl J Med 292 : 491-496, 1975
25. Wong PWK, Justice P, Hruby M, et al : Folic acid nonresponsive homocystinuria due to methylenetetrahydrofolate rednctase deficiency Pediatrics 59 : 749-756, 1977
26. Wendel U, Bremer HJ : Betaine in the treatment of homocystinuria due to 5, 10-methylenetetrahydrofolate reductase deficiency. Eur J Pediatr 142 : 147-150, 1984
27. Holme E, Kjellman B, Ronge E : Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency. Arch Dis Child 64 : 1061-1064, 1989
28. Haworth JC, Dilling LA, Surtees RAH, et al : Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers. Am J Med Genet 45 : 572-576, 1993
29. Visy JM, Coz PL, Chadefaux B, et al : Homocystinuria due to 5, 10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings. Neurology 41 : 1313-1315, 1991