Leukoencephalopathies associated with disorders of cobalamin and folate metabolism

Seminars in Neurology

Volumn 32, Issue 1, 2012, Pages 68-74

  Wilcken, Bridget ^a,b  

^a UNIVERSITY OF SYDNEY   (Australia)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

CblC; cobalamin; folic acid; homocysteine; leukoencephalopathy

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; 5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BETAINE; CARNITINE; COBAMAMIDE; CYANOCOBALAMIN; FOLATE RECEPTOR 1; FOLIC ACID; FOLINIC ACID; HOMOCYSTEINE; HYDROXOCOBALAMIN; MECOBALAMIN; METHIONINE; METHYLMALONIC ACID; PROTON COUPLED FOLATE TRANSPORTER;

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY; ARTICLE; CARDIOMYOPATHY; CELL METABOLISM; CEREBRAL FOLATE DEFICIENCY SYNDROME; COBALAMIN C DEFECT; COBALAMIN D DEFECT; COBALAMIN F DEFECT; COBALAMIN METABOLISM; CONGENITAL HEART DISEASE; CYANOCOBALAMIN DEFICIENCY; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DRUG MEGADOSE; ENZYME DEFICIENCY; FAILURE TO THRIVE; FEEDING DISORDER; FOLATE METABOLISM; FOLIC ACID DEFICIENCY; GENE; GENE MUTATION; HEMOLYTIC UREMIC SYNDROME; HEREDITARY FOLATE MALABSORPTION; HOMOCYSTINURIA; HUMAN; HYDROCEPHALUS; INTRAUTERINE GROWTH RETARDATION; LETHARGY; LEUKOENCEPHALOPATHY; LMBRD1 GENE; MALABSORPTION; MEGALOBLASTIC ANEMIA; METABOLIC DISORDER; METHYLCOBALAMIN DEFICIENCY; METHYLMALONIC ACIDURIA; MICROCEPHALY; MMACHC GENE; MMADHC GENE; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEUROIMAGING; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; PANCYTOPENIA; PRIORITY JOURNAL; PROTEIN RESTRICTION; RETINA PIGMENT DEGENERATION; SEIZURE; SEQUENCE ANALYSIS; STOMATITIS; THROMBOEMBOLISM; VENTRICULAR NONCOMPACTION; VITAMIN DEFICIENCY; VITAMIN METABOLISM; VOMITING;

COBAMIDES; FOLIC ACID; HOMOCYSTEINE; HUMANS; INFANT, NEWBORN; LEUKOENCEPHALOPATHIES; NEONATAL SCREENING; TETRAHYDROFOLATES; VITAMIN B 12;

EID: 84858113267     PISSN: 02718235     EISSN: 10989021     Source Type: Journal    
DOI: 10.1055/s-0032-1306389     Document Type: Article

References (40)

1. Hörster F, Surtees R, Hoffmann GF. Disorders of intermediary metabolism: toxic leukoencephalopathies. J Inherit Metab Dis: 2005; 28 3 345 356 (Pubitemid 40723868)
2. Watkins D, Rosenblatt DS. Inborn errors of cobalamin absorption and metabolism. Am J Med Genet C Semin Med Genet: 2011; 157 1 33 44
3. Whitehead VM. Acquired and inherited disorders of cobalamin and folate in children. Br J Hematol: 2006; 134 2 125 136
4. Green R. Indicators for assessing folate and vitamin B-12 status and for monitoring the efficacy of intervention strategies. Am J Clin Nutr: 2011; 94 2 666S 672S
5. Schiff M, Ogier de Baulny H, Bard G., et al. Should transcobalamin deficiency be treated aggressively? J Inherit Metab Dis: 2010; 33 3 223 229
6. Lerner-Ellis JP, Tirone JC, Pawelek PD., et al. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet: 2006; 38 1 93 100 (Pubitemid 43011888)
7. Carrillo-Carrasco N, Venditti CP. Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes. J Inherit Metab Dis: 2012; 35 1 103 114
8. Carrillo-Carrasco N, Chandler RJ, Venditti CP. Combined methylmalonic acidemia and homocystinuria, cblC type I. Clinical presentations, diagnosis and management. J Inherit Metab Dis: 2012; 35 1 91 102
9. Profitlich LE, Kirmse B, Wasserstein MP, Diaz GA, Srivastava S. High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. Mol Genet Metab: 2009; 98 4 344 348
10. Longo D, Fariello G, Dionisi-Vici C., et al. MRI and 1H-MRS findings in early-onset cobalamin C/D defect. Neuropediatrics: 2005; 36 6 366 372 (Pubitemid 43162347)
11. Rossi A, Cerone R, Biancheri R., et al. Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings. AJNR Am J Neuroradiol: 2001; 22 3 554 563 (Pubitemid 32221426)
12. Thauvin-Robinet C, Roze E, Couvreur G., et al. The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum. J Neurol Neurosurg Psychiatry: 2008; 79 6 725 728 (Pubitemid 351829451)
13. Boxer AL, Kramer JH, Johnston K, Goldman J, Finley R, Miller BL. Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment. Neurology: 2005; 64 8 1431 1434 (Pubitemid 40570514)
14. Erbe RW, Salis RJ. Severe methylenetetrahydrofolate reductase deficiency, methionine synthase, and nitrous oxidea cautionary tale. N Engl J Med: 2003; 349 1 5 6 (Pubitemid 36765097)
15. Lerner-Ellis JP, Anastasio N, Liu J., et al. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Hum Mutat: 2009; 30 7 1072 1081
16. Gravel RA, Mahoney MJ, Ruddle FH, Rosenberg LE. Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism. Proc Natl Acad Sci U S A: 1975; 72 8 3181 3185
17. Froese DS, Zhang J, Healy S, Gravel RA. Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. Mol Genet Metab: 2009; 98 4 338 343
18. Carrillo-Carrasco N, Sloan J, Valle D, Hamosh A, Venditti CP. Hydroxocobalamin dose escalation improves metabolic control in cblC. J Inherit Metab Dis: 2009; 32 6 728 731
19. Smulders YM, Smith DE, Kok RM., et al. Cellular folate vitamer distribution during and after correction of vitamin B12 deficiency: a case for the methylfolate trap. Br J Hematol: 2006; 132 5 623 629 (Pubitemid 43381597)
20. Goodman SI, Moe PG, Hammond KB, Mudd SH, Uhlendorf BW. Homocystinuria with methylmalonic aciduria: two cases in a sibship. Biochem Med: 1970; 4 5 500 515
21. Suormala T, Baumgartner MR, Coelho D., et al. The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. J Biol Chem: 2004; 279 41 42742 42749 (Pubitemid 39372161)
22. Coelho D, Suormala T, Stucki M., et al. Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med: 2008; 358 14 1454 1464 (Pubitemid 351482737)
23. Rutsch F, Gailus S, Miousse IR., et al. Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat Genet: 2009; 41 2 234 239
24. Zavadkov P, Fowler B, Suormala T., et al. cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. Hum Mutat: 2005; 25 3 239 247 (Pubitemid 40365142)
25. Vilaseca MA, Vilarinho L, Zavadakova P., et al. CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene. J Inherit Metab Dis: 2003; 26 4 361 369 (Pubitemid 37045444)
26. Watkins D, Rosenblatt DS. Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity. Am J Med Genet: 1989; 34 3 427 434 (Pubitemid 19284633)
27. Kang SS, Zhou J, Wong PW, Kowalisyn J, Strokosch G. Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet: 1988; 43 4 414 421
28. Engelbrecht V, Rassek M, Huismann J, Wendel U. MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency. AJNR Am J Neuroradiol: 1997; 18 3 536 539 (Pubitemid 27154573)
29. Tallur KK, Johnson DA, Kirk JM, Sandercock PA, Minns RA. Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene- tetrahydrofolate reductase deficiency: variable response in siblings. Dev Med Child Neurol: 2005; 47 1 53 56 (Pubitemid 40163968)
30. Arai M, Osaka H. Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency. Epilepsia: 2011; 52 7 e58 e61
31. Strauss KA, Morton DH, Puffenberger EG., et al. Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency. Mol Genet Metab: 2007; 91 2 165 175 (Pubitemid 46765173)
32. Sofer Y, Harel L, Sharkia M, Amir J, Schoenfeld T, Straussberg R. Neurological manifestations of folate transport defect: case report and review of the literature. J Child Neurol: 2007; 22 6 783 786 (Pubitemid 47034392)
33. Hyland K, Shoffner J, Heales SJ. Cerebral folate deficiency. J Inherit Metab Dis: 2010; 33 5 563 570
34. Prez-Dueas B, Toma C, Ormazbal A., et al. Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene. J Inherit Metab Dis: 2010; 33 6 795 802
35. Pineda M, Ormazabal A, Lpez-Gallardo E., et al. Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. Ann Neurol: 2006; 59 2 394 398 (Pubitemid 43202497)
36. Surtees R, Hyland K. 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: 1990; 44 2 192 199 (Pubitemid 20369936)
37. Banka S, Blom HJ, Walter J., et al. Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. Am J Hum Genet: 2011; 88 2 216 225
38. Turgeon CT, Magera MJ, Cuthbert CD., et al. Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry. Clin Chem: 2010; 56 11 1686 1695
39. Morel CF, Lerner-Ellis JP, Rosenblatt DS. Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. Mol Genet Metab: 2006; 88 4 315 321 (Pubitemid 44107770)
40. Tortorelli S, Turgeon CT, Lim JS., et al. Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry. J Pediatr: 2010; 157 2 271 275