Functional methionine synthase deficiency due to cblG disorder: A report of two patients and a review

American Journal of Medical Genetics

Volumn 71, Issue 4, 1997, Pages 384-390

  Harding, Cary O ^a   Arnold, Georgianne ^b   Barness, Lewis A ^a,d   Wolff, Jon A ^a   Rosenblatt, David S ^c  

^a UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^b UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^c MCGILL UNIVERSITY   (Canada)

^d UNIVERSITY OF SOUTH FLORIDA   (United States)

Author keywords

Homocystinuria; Megaloblastic anemia; Vitamin B12

Indexed keywords

COBALAMIN; FOLIC ACID; HOMOCYSTEINE; MECOBALAMIN; METHIONINE SYNTHASE;

ANOREXIA; ARTICLE; CASE REPORT; CELL CULTURE; DISEASE ASSOCIATION; DISEASE SEVERITY; ENZYME DEFICIENCY; HOMOCYSTINURIA; HUMAN; LETHARGY; MALE; MEGALOBLASTIC ANEMIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN FIBROBLAST;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; ANEMIA, MACROCYTIC; ANEMIA, MEGALOBLASTIC; ANOREXIA; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FEMALE; FIBROBLASTS; GENETIC COMPLEMENTATION TEST; HOMOCYSTINE; HOMOCYSTINURIA; HUMANS; MALE; METHIONINE; SKIN; VITAMIN B 12;

EID: 0030769174     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970905)71:4<384::AID-AJMG3>3.0.CO;2-U     Document Type: Article

References (22)

1. Bartholomew DW, Batshaw ML, Allen RH, Roe CR, Rosenblatt D, Valle DL, Francomano CA (1988): Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. J Pediatr 112:32-39.
2. 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.
3. 12 metabolism. Ann Rev Nutr 7:291-320.
4. 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." New York: McGraw-Hill, pp 3129-3149.
5. Gulati S, Baker P, Li YN, Fowler B, Kruger W, Brody LC, Banerjee R (1996): Defects in human methionine synthase in cblG patients. Hum Molec Genet 5:1859-1865.
6. Hall C, Arenson E, Chu R, Begley J (1987): Defective cobalamin methylation in cblG mutation. Blood 70:47a, abstract.
7. Hall CA, Lindenbaum RH, Arenson E, Begley JA, Chu RC (1989): The nature of the defect in cobalamin G mutation. Clin Invest Med 12:262-269.
8. 12 and folic acid metabolism: Folic acid clearance studies. J Clin Invest 41:1263-1276.
9. Hoffmann G, Aramaki S, Blum-Hoffmann E, Nyhan WL, Sweetman L (1989): Quantitative analysis for organic acids in biological samples: Batch isolation followed by gas chromatographic-mass spectrometric analysis. Clim Chem 35:587-595.
10. Leclerc D, Campeau E, Goyette P, Adjalla CE, Christensen B, Ross M, Eydoux P, Rosenblatt DS, Rozen R, Gravel RA (1996): Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. Hum Molec Genet 5:1867-1874.
11. McKie VC, Roesal A, Hommes FA, Watkins D, Rosenblatt DS, Flannery DB (1986): Clinical findings in an infant with methylcobalamin deficiency (cblE variant). Am J Hum Genet 39:A71, abstract.
12. Morton DH, Levy HL, Bresnan MI, Hall CA, Watkins D, Rusenblatt DS (1988): Cobalamin (cbl) E mutation with developmental delay, myoclonic seizures and hypsarrhythmia: Therapy with methylcobalamin (MeCbl). Am J Hum Genet 39:A16, abstract.
13. Mudd S, Levy H, Skovby F (1995): Disorders of transsulfuration. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): "The Metabolic and Molecular Bases of Inherited Disease." New York: McGraw-Hill, pp 1285-1287.
14. 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.
15. 12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease). Lancet 1:1127-1129.
16. 12 responsive homocystinuria and megaloblastic anemia: Heterogeneity in methylcobalamin deficiency. Am J Med Genet 26:377-383.
17. Shih VE, Mandell R, Sheinhait I (1991): General metabolic screening tests. In Hommes FA (ed): "Techniques in Diagnostic Human Biochemical Genetics." New York: Wiley-Liss, pp 49-50.
18. 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." New York: Plenum, pp 71-76.
19. Slocum RH, Cummings JG (1991): Amino acid analysis of physiological samples. In Hommes FA (ed): "Techniques in Diagnostic Human Biochemical Genetics." New York: Wiley-Liss, pp 87-126.
20. 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.
21. Watkins D, Rosenblatt DS (1989): Functional methionine synthase deficiency (cblE and cblG): Clinical and biochemical heterogeneity. Am J Med Genet 34:427-434.
22. Willard HF, Mellman IS, Rosenberg LE (1978): Genetic complementation among inherited deficiencies in methylmalonylcoA mutase activity: Evidence for a new class of human cobalamin mutant. Am J Hum Genet 30:1-13.