IEM digest

Molecular Genetics and Metabolism

Volumn 85, Issue 1, 2005, Pages 2-6

  Tanpaiboon, Pranoot ^a,b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; COBALAMIN; CYANOCOBALAMIN; GROWTH HORMONE; INTRINSIC FACTOR; METHYLMALONYL COENZYME A MUTASE; METRONIDAZOLE; METHYLMALONIC ACID;

CLINICAL FEATURE; DIET THERAPY; ENZYME ACTIVITY; ENZYME DEFECT; HOMOCYSTINURIA; HUMAN; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; LABORATORY DIAGNOSIS; LABORATORY TEST; LIVER TRANSPLANTATION; METABOLIC DISORDER; METABOLISM; METHYLMALONIC ACIDEMIA; MOLECULAR GENETICS; MUTATION; PRIORITY JOURNAL; PROGNOSIS; REVIEW; VITAMIN SUPPLEMENTATION; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GENETICS; INTESTINE ABSORPTION; SYNDROME;

AMINO ACID METABOLISM, INBORN ERRORS; HUMANS; INTESTINAL ABSORPTION; METHYLMALONIC ACID; METHYLMALONYL-COA MUTASE; SYNDROME; VITAMIN B 12;

EID: 18044368267     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.03.008     Document Type: Review

References (24)

1. WA. Fenton, R. Gravel, D. Rosenblatt, Disorders of propionate and methylmalonate metabolism, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic and Molecular Basis of Inherited Disease, vol. II, McGrawHill Companies, 2001, pp. 2165-2193 (Chapter 94).
2. J.H. Walter, J.V. Leonard, G.N. Thompson, K. Bartlett, D. Halliday, Contribution of aminoacid catabolism to propionate production in methylmalonic acidaemia. Lancet 333 (1989) 1298-1299.
3. - forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. Hum. Mutat. 25 (2005) 167-176.
4. C.H. Halsted, Absorption of water-soluble vitamins. Curr. Opin. Gastroenterol. 19 (2003) 113-117.
5. D. Rosenblatt, WA. Fenton, Inherited disorders of folate and cobalamin transport and metabolism, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic and Molecular Basis of Inherited Disease, vol. II, McGrawHill Companies, 2001, pp. 3897-3933 (Chapter 155).
6. T. Suormala, M.R. Baumgartner, D. Coelho, P. Zavadakova, V. Koich, H.G. Koch, M. Berghuser, J.E. Wraith, A. Burlina, A. Sewell, J. Herwig, B. Fowler, The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. J. Biol. Chem. 279 (2004) 42742-42749.
7. D. Watkins, N. Matiaszuk, D. Rosenblatt, Complementation studies in the cblA class of inborn error of Cobalamin metabolism: evidence for interalleic complementation and for a newcomplementation class (cblH). J. Med. Genet. 37 (2000) 50-513.
8. K.M. Niles, L. Worgan, J.C. Tirone, A. Hoffman, K. Morgan, A. Verner, A. Sammak, P. Lepage, D. Rosenblatt, The spectrum of mutations in mut methylmalonic aciduria and identification of a common Hispanic mutation and haplotype (abstract), in: 54th Annual Meeting The American Society of Human Genetics, Toronto, 26-30 October, 2004, p. 326.
9. C.M. Dobson, T. Wai, D. Leclerc, A. Wilson, X. Wu, C. Dore, T. Hudson, D. Rosenblatt, R. Gravel, Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proc. Natl. Acad. Sci. USA 99 (2002) 15554-15559.
10. N. Korotkova, M.E. Lidstrom, MeaB is a component of the methylmalonyl-CoA mutase complex required for protection of the enzyme from inactivation. J. Biol. Chem. 279 (2004) 13652-13658.
11. J.P. Lerner-Ellis, C.M. Dobson, T. Wai, D. Watkins, J.C. Tirone, D. Leclerc, C. Dore, P. Lepage, R.A. Gravel, D. Rosenblatt, Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. Hum. Mutat. 24 (2004) 509-516.
12. C.M. Dobson, T. Wai, D. Leclerc, H. Kadir, M. Narang, J.P. Lerner-Ellis, T.J. Hudson, D. Rosenblatt, R. Gravel, Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum. Mol. Genet. 11 (2002) 3361-3369.
13. S.M. Matsui, M.J.Mahoney, L.E. Rosenberg,Thenatural history of the inherited methylmalonic acidemias. NEJM 308 (1983) 857-861.
14. E.R. Baumgarter, C. Viardot, and colleagues of 39 hospitals from 7 European countries, long-term follow-up of 77 patients with isolated methylmalonic acidaemia. J. Inherit. Metab. Dis. 18 (1995) 138-142.
15. J. Brismar, P.T. Ozand, CT and MR of the brain in disorders of the propionate and methylmalonate metabolism. Am. J. Neuroradiol. 15 (1994) 1459-1473.
16. S.B. van der Meer et al., Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. J. Pediatr. 125 (1994) 903-908.
17. A.J. Giorgio, L. Luhby, A rapid screening test for the detection of congenital methylmalonic aciduria in infancy. Am. J. Clin. Pathol. 52 (1969) 374-379.
18. P. Nicolaides, J. Leonard, R. Surtees, Neurological outcome of methylmalonic acidaemia. Arch. Dis. Child. 78 (1998) 508-512.
19. A.M. Brusque, R.B. Rosa, P.F. Schuck, K.B. Dalcin, C.A.J. Ribeiro, C.G. Silva, C.M.D. Wannmacher, C.S. Dutra-Filho, A.T.S. Wyse, P. Briones, M. Wajner, Inhibition of the mitochondrial respiratory chain complex activities in rat cerebral cortex by methylmalonic acid. Neurochem. Int. 40 (2002) 593-601.
20. C.F. de Mello, J. Begnini, R.E. Jimenez-Bernal, M. Rubin, J. de Bastiani, E.M. da Costa Jr., Intrastriatal methylmalonic acid administration induces rotational behavior and convulsions though glutamatergic mechanism. Brain Res. 721 (1996) 120-125.
21. S. Klker, J.G. Okun, Methylmalonic acid - an endogenous toxin?: visions and reflections. Cell. Mol. Life Sci. 62 (2005) 621-624.
22. J.V. Leonard, J.H. Walter, P.J. McKiernan, The management of organic acidaemias: the role of transplantation: workshop report. J. Inherit. Met. Dis. 24 (2001) 309-311.
23. W.L. Nyhan, J.J. Gargus, K. Boyle, R. Selby, R. Koch, Progressive neurologic disability in methylmalonic academia despite transplantation of the liver. Eur. J. Pediatr. 161 (2002) 377-379.
24. P. Kaplan, A.M. Mazur, R. Smith, K. Oltho., E. Maller, M. Palmieri, G.T. Berry. Transplantation for maple syrup urine disease (MSUD) and methylmalonic acidopathy (MMA). J. Inherit. Metab. Dis. 20S (1) (1997) 37.