Methionine synthase deficiency without megaloblastic anaemia

European Journal of Pediatrics

Volumn 156, Issue 12, 1997, Pages 925-930

  Kvittingen, E A ^a   Spangen, S ^b   Lindemans, J ^c   Fowler, B ^d  

^a UNIVERSITY OF OSLO   (Norway)

^b Aalesund Regional Hospital   (Norway)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^d UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

5,10 Methylenetetrahydrofolate; Homocysteine; Megaloblastic anaemia; Methionine synthase; Polymorphism

Indexed keywords

BETAINE; CYANOCOBALAMIN; METHIONINE; METHIONINE SYNTHASE; METHYLMALONIC ACID;

ACIDURIA; ARTICLE; CASE REPORT; CONTROLLED STUDY; CYANOCOBALAMIN DEFICIENCY; DEVELOPMENTAL DISORDER; DOSE RESPONSE; ENZYME DEFICIENCY; GENE MUTATION; GENETIC POLYMORPHISM; HOMOCYSTINURIA; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MEGALOBLASTIC ANEMIA; METHIONINE SYNTHASE DEFICIENCY; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; ANEMIA, MEGALOBLASTIC; CHILD; CHILD, PRESCHOOL; HOMOCYSTINURIA; HOMOZYGOTE; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; POLYMORPHISM, GENETIC; VITAMIN B 12;

EID: 0031437314     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050744     Document Type: Article

References (24)

1. Bonham JR, Moat SJ, Guthrie PAI, Olpin SE, Tanner MS, Makis M (1996) The thermolabile methylenetetrahydrofolate reductase (MTHFR) mutation - a common finding in the UK population. J Inherit Metab Dis 19 [Suppl]:23 (P46)
2. Boss GR (1985) Cobalamin inactivation decreases purine and methionine synthesis in cultured lymphocytes. J Clin Invest 76:213-218
3. Carmel R, Watkjins D, Goodman SI, Rosenblatt DS (1988) Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurological disorder in adulthood. N Engl J Med 318:1738-1741
4. Chanarin I, Deacon R, Lumb M, Perry J (1980) Vitamin B12 regulates folate metabolism by the supply of formate. Lancet 6:505-507
5. Chanarin I, Deacon R, Lumb M, Perry J (1989) Cobalamin-folate interrelations. Blood 3:211-215
6. Fowler B (1982) Transsulfuration and methylation of homocysteine in control and mutant human fibroblasts. Biochem Biophys Acta 721:201-207
7. Fowler B, Whithouse C, Wenzel F, Wraith JEW (1997) Methionine and serine formation in control and mutant human cultured fibroblasts: evidence for methyl trapping and characterization of remethylation defects. Pediatr Res 41:145-151
8. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP, Rozen R (1995) A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10:111-113
9. Gravel R, Lewry A, Saunders M, Hösli P (1979) Analysis of genetic complementation by wholecell microtechniques in tibroblast heterokaryons. Proc Natl Acad Sci 76:6520-6524
10. Gulati S, Baker P, Li YN, Fowler B, Kruger W, Brody LC, Banjeree R (1996) Defects in human methionine synthase in CblG patients. Hum Mol Gene 12:1859-1856
11. Hoffbrand AV, Jackson BF (1993) Correction of the DNA synthesis defect in vitamin B12 deficiency by tetrahydrofolate: evidence in favour of the methyl-folate trap hypothesis as the cause of megaloblastic anaemia in vitamin B12 deficiency. Br J Haematol 83:643-647
12. Jacobsen DW, Green R, Quadros EV, Montejado YD (1982) Rapid analysis of cobalamin coenzymes and related corrinoid analogs by high-performance liquid chromotography. Analyt Biochem 120:394-403
13. Leclerc D, Campeau E, Goyette P, Adjalla CE, Christensen B, Ross M, Eydoux P, Rosenblatt DS, Rozen R, Grvel RA (1996) Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate cobalamin disorders. Hum Mol Gene 12:1867-1874
14. Li YN, Gulati S, Baker PJ, Brody LC, Banjeree R, Kruger WD (1996) Cloning, mapping and RNA analysis of the human methionine synthase gene. Hum Mol Gene 12:1851-1856
15. Lindenbaum J, Healton EB, Savage DG, Brust JCM, Garrett TJ, Podell ER, Marcell PD, Stabler SP, Allen RH (1988) Neuropsychiatric disorders caused by cobalamin deficiency in the absence of anemia or macrocytosis. N Engl J Med 318:1720-1728
16. Mellman I, Willard HF, Youngdahl-Turner P, Rosenberg LE (1979) Cobalamin coenzyme synthesis in normal and mutant fibroblasts:evidence for a processing enzyme activity deficient in cblC cells. J Biol Chem 254:11847-11853
17. Rosenblatt DS, Erbe RW (1977) Methylenetetrahydrofolate reductase in cultured human cells. I. Growth and metabolic studies. Pediatr Res 11:1137-1141
18. 12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a new defect in methionine biosynthesis. J Clin Invest 74:2149-2156
19. Sillaots SL, Hall CA, Hurteloup V, Rosenblatt DS (1992) Heterogeneity in cblG. Differential retention of cobalamin on methionine synthase. Biochem Med Metab Biol 47:242-249
20. Surtees R, Hyland K (1990) Cerebrospinal fluid concentrations of S-adenosylmethionine, methionine, and 5-methyltetrahydrofolate in a reference population:cerebrospinal fluid S-adenosylmethionine declines with age in humans. Biochem Med Metab Biol 44:192-199
21. Surtees R, Leonard J, Austin S (1991) Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway. Lancet 338:1550-1554
22. Van Kapel J, Spijkers LJM, Lindemans J, Abels J (1983) Improved distribution analysis of cobalamins and cobalamin analogues in human plasma in which the use of thiol-blocking agents is a prerequisite. Clin Chim Acta 131:211-214
23. Watkins D, Rosenblatt DS (1988) Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG. J Clin Invest 81:1690-1694
24. Watkins D, Rosenblatt DS (1989) Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity. Am J Med Genet 34:427-434