Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: Variable response in siblings

Developmental Medicine and Child Neurology

Volumn 47, Issue 1, 2005, Pages 53-56

  Tallur, K Kamath ^a   Johnson, David A ^b   Kirk, Jean M ^b   Sandercock, Peter A G ^c   Minns, Robert A ^a,b  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^c WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CYANOCOBALAMIN; FOLIC ACID; HOMOCYSTEINE; VALPROIC ACID;

ADULT; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CASE REPORT; CHILDHOOD DISEASE; CLINICAL FEATURE; COGNITION; ENZYME DEFICIENCY; FEMALE; FOLLOW UP; HUMAN; INTELLIGENCE QUOTIENT; LEUKOENCEPHALOPATHY; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SCORING SYSTEM; SIBLING; URINALYSIS; WHITE MATTER;

ACTIVITIES OF DAILY LIVING; ADOLESCENT; ADULT; BETAINE; BRAIN; DRUG THERAPY, COMBINATION; FEMALE; FOLIC ACID; FOLLOW-UP STUDIES; HOMOCYSTINURIA; HUMANS; INTELLIGENCE; LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL; LONG-TERM CARE; MAGNETIC RESONANCE IMAGING; MALE; METHIONINE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); NEUROLOGIC EXAMINATION; TREATMENT OUTCOME;

EID: 12844285542     PISSN: 00121622     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0012162205000095     Document Type: Article

References (22)

1. Baethmann M, Wendel U, Hoffmann GF, Gohlich-Ratmann G, Kleinlein B, Seiftert P, Blom H, Voit T. (2000) Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency. Neuropediatrics 31: 314-317.
2. Engelbrecht V, Rassek M, Huismann J, Wendel U. (1997) MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency. AJNR Am J Neuroradiol 18: 536-539.
3. Finkelstein JD, Martin JJ. (2000) Homocysteine. Int J Biochem Cell Biol 32: 385-389.
4. Flynn JR. (1998) WAIS-III and WISC-III IQ gains in the United States from 1972 to 1995: how to compensate for obsolete norms. Percept Mot Skills 86: 1231-1239.
5. Goyette P, Pai A, Milos R, Frost P, Tran P, Chen Z, Chan M, Rozen R. (1998) Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR). Mamm Genome 9: 652-656.
6. Haworth JC, Dilling LA, Surtees RA, Seargeant LE, Lue-Shing H, Cooper BA, Rosenblatt DS. (1993) Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers. Am J Med Genet 45: 572-576.
7. Holme E, Kjellman B, Ronge E. (1989) Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency. Arch Dis Child 7: 1061-1064.
8. Hyland K, Smith I, Bottiglieri T, Perry J, Wendel U, Clayton PT, Leonard JV. (1988) Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency. Neurology 38: 459-462.
9. Johnson DA, Almli CR. (1978) Age, brain damage and performance. In: Finger S, editor. Recovery from Brain Damage - Research and Theory. New York: Plenum Press. p 115-132.
10. Kirk JM, Minns RA, Sandercock PAG, Whitehouse C, Fowler B. (1993) Homocystinuria due to methylene tetrahydrofolate reductase deficiency in two siblings - clinical response to folate therapy. In: The Society for the Study of Inborn Errors of Metabolism, 31st Annual Symposium, Manchester UK. Lancaster, UK: Kluwer Academic. p 26.
11. Levitt M, Nixon P, Pincus J, Bertino J. (1971) Transport characteristics of folate in cerebrospinal fluid; a study utilising doubly labelled 5-methyltetrahydrofolate and 5-formyltetrahydrofolate. J Clin Invest 50: 1301-1308.
12. Moat SJ, Bonham JR, Tanner MS, Allen JC, Powers HJ. (1999) Recommended approaches for the laboratory measurement of homocysteine in the diagnosis and monitoring of patients with hyperhomocysteinaemia. Ann Clin Biochem 36: 372-379.
13. 12 deficiency. N Engl J Med 348: 2208. (Abstract)
14. Schwahn B, Rozen R. (2001) Polymorphisms in the methylenetetrahydrofolate reductase gene: clinical consequences. Am J Pharmacogenomics 1: 189-201.
15. 10-methylene tetrahydrofolate reductase deficiency. Pediatr Res 6: 135.
16. +-ATPase activity caused by homocysteine. Int J Devl Neurosci 20: 77-81.
17. 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.
18. Surtees R. (1993) Biochemical pathogenesis of subacute combined degeneration of the spinal cord and brain. J Inher Metab Dis 16: 762-770.
19. Walk D, Kang SS, Horwitz A. (1994) Intermittent encephalopathy reversible nerve conduction slowing and MRI evidence of cerebral white matter disease in methylene tetrahydrofolate reductase deficiency. Neurology 44: 344-347.
20. Wechsler D. (1987) Wechsler Intelligence Scale for Children - Revised. San Antonio, Texas, USA: The Psychological Corporation.
21. Wechsler D. (1998) Wechsler Adult Intelligence Scale. 3rd edn UK. San Antonio, Texas, USA: The Psychological Corporation.
22. Wendel U, Bremer HJ. (1984) Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. Eur J Pediatr 142: 147-150.