Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease)

Journal of Inherited Metabolic Disease

Volumn 20, Issue 6, 1997, Pages 731-741

  Fowler, B ^a   Schutgens, R B H ^b   Rosenblatt, D S ^c   Smit, G P A ^d   Lindemans, J ^e  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c MCGILL UNIVERSITY   (Canada)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COBALAMIN; DITHIOTHREITOL; FOLIC ACID; FORMIMINOGLUTAMIC ACID; HOMOCYSTINE; MECOBALAMIN; METHIONINE; METHIONINE SYNTHASE; SERINE;

ADOLESCENT; ALERTNESS; ARTICLE; BIOCHEMISTRY; CASE REPORT; CHILD; CONSCIOUSNESS; CULTURE MEDIUM; DISEASE COURSE; DRUG EFFICACY; DRUG MEGADOSE; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST CULTURE; HOMOCYSTINURIA; HUMAN; INFANT; MEAN CORPUSCULAR VOLUME; MEGALOBLASTIC ANEMIA; MENTAL DEFICIENCY; MICROCEPHALY; MOTOR PERFORMANCE; NEWBORN; PSYCHOMOTOR RETARDATION; SPEECH; SUPPLEMENTATION;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; ANEMIA, MEGALOBLASTIC; ERYTHROCYTE INDICES; FEMALE; FIBROBLASTS; FOLIC ACID; HOMOCYSTINURIA; HUMANS; INFANT; VITAMIN B 12;

EID: 0030825907     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005372730310     Document Type: Article

References (38)

1. Anderson BB, Peart MB. Fulford-Jones CE (1970) The measurement of serum pyridoxal by a microbiological assay using Lactobacillus casei. J Clin Pathol 23: 232-242.
2. Banerjee RV, Matthews RG (1990) Cobalamin-dependent methionine synthase. FASEB J 4: 1450-1459.
3. Baumgartner ER Stokstad ELR, Wick H, Watson JE, Kusano G (1985) Comparison of folic acid coenzyme distribution patterns in patients with methylenetetrahydrofolate reductase and methionine synthetase deficiencies. Pediatr Res 19: 1288-1292.
4. Boss GR (1985) Cobalamin inactivation decreases purine and methionine synthesis in cultured lymphocytes. J Clin Invest 76: 213-218.
5. Carmel R, Watkins D, Goodman SI, Rosenblatt DS (1988) Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood. N Engl J Med 318: 1738-1741.
6. Chanarin I, Deacon R, Lumb M, Perry J (1989) Cobalamin-folate interrelations. Blood Rev 3: 211-215.
7. Chen Z, Crippen K, Gulati S, Banerjee R (1994) Purification and kinetic mechanism of mammalian methionine synthase from pig liver. J Biol Chem 269: 27193-27197.
8. Chu RC, Begley JA, Colligan PD, Hall CA (1993) The methylcobalamin metabolism of cultured human fibroblasts. Metabolism 42: 315-319.
9. Duran M, Ketting D, Wadman SK, Jakobs C, Schutgens R, Veder H (1978) Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefact. Clin Chim Acta 90: 187-193.
10. Fenton WA, Rosenberg LE (1995) Inherited disorders of cobalamin transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 3129-3150.
11. Fowler B (1982) Transsulphuration and methylation of homocysteine in control and mutant human fibroblasts. Biochim Biophys Acta 721: 201-207.
12. Fowler B, Kraus J, Packman S, Rosenberg LE (1978) Homocystinuria: evidence for three distinct classes of cystathionine beta synthase mutants in cultured fibroblasts. J Clin Invest 61: 645-653.
13. Fowler B, Whitehouse C, Wenzel F, Wraith JE (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.
14. Frasca V, Riazzi BS, Matthews RG (1986) In vitro inactivation of methionine synthase by nitrous oxide. J Biol Chem 261: 15823-15826.
15. 12 assays. Clin Chim Acta 127: 185-195.
16. 12 in the central nervous system as revealed by congenital defects. Am J Hematol 34: 121-127.
17. 12 deficient breastfed infant of a strict vegetarian. N Engl J Med 299: 317-323.
18. Kolhouse JF, Utley C, Stabler SP, Allen RH (1991) Mechanisms of conversion of human apo- to holomethionine synthase by various forms of cobalamin. J Biol Chem 266: 23010-23015.
19. Lowry OH, Rosebrough NHJ, Farr AL, Randall RJ (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193: 265-275.
20. Mellman I, Willard HF, Rosenberg LE (1978) Cobalamin binding and cobalamin-dependent enzyme activity in normal and mutant human fibroblasts. J Clin Invest 62: 952-960.
21. Mukulu DR, Smith EF, Bertino JR (1973) Lack of dihydrofolate activity in brain tissues of mammalian species: possible implications. J Neurochem 21: 241-245.
22. Niederwieser A, Gilberti P, Matasovic A, Pluznik S, Steinmann B, Baerlocher K (1974) Folic acid non-dependent formiminoglutamic acidaemia in two siblings. Clin Chim Acta 54: 293-316.
23. Rosenblatt DS, Erbe DW (1977) Methylenetetrahydrofolate reductase in cultured human cells. 1. Growth and metabolic studies. Pediatr Res 11: 1137-1141.
24. 12 metabolism in fibroblasts from a patient with megaloblastic anemia and homocystinuria due to a defect in methionine biosynthesis. J Clin Invest 74: 2149-2156.
25. 12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease). Lancet 1: 1127-1129.
26. 12 responsive homocystinuria and megaloblastic anaemia. Am J Med Genet 26: 377-383.
27. 12 therapy. N Engl J Med 310: 686-690.
28. Shin YS, Reiter S, Zelger O, Brunstler I, Rucker AV (1986) Orotic aciduria, homocystinuria, formiminoglutamic aciduria and megaloblastosis associated with the formiminotransferase/ cyclodeaminase deficiency. In: Nyhan WL, Thompson F, Watts RWE, eds. Purine and Pyrimidine Metabolism in Man. Plenum Press, New York, 71-76.
29. Strong WB, Schirch V (1989) In vitro conversion of formate to serine: effect of tetrahydropteroylglutamates and serine hydroxymethyltransferase on the rate of 10-formyltetrahydrofolate synthetase. Biochemistry 28: 9430-9439.
30. 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.
31. Tabor H, Wijngarden L (1958) A method for the determination of formiminoglutamic acid in urine. J Clin Invest 37: 824-827.
32. 12-responsive megaloblastic anaemia, homocystinuria and transient methylmalonic aciduria in cblE disease. J Pediatr 113: 1052-1056.
33. Utley CS, Marcell PD, Allen RH, Antony AC, Kolhouse JF (1985) Isolation and characterization of methionine synthetase from human placenta. J Biol Chem 25: 13656-13665.
34. 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: 211-224.
35. Voogd CE, Blok-Scholten MGA, Spalberg EC (1985) Stability of folic acid activity in serum. Med Lab Sci 42: 233-236.
36. Watkins D, Rosenblatt DS (1988) Genetic heterogeneity among patients with methylcobalamin deficiency. J Clin Invest 81: 1690-1694.
37. Watkins D, Rosenblatt DS (1989) Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity. Am J Med Genet 34: 427-434.
38. Willard HF, Ambani LM, Hart AC, Mahoney MJ, Rosenberg LE (1976) Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate and cobalamin metabolism: a sensitive assay using cultured cells. Hum Genet 34: 277-283.