Rapid diagnosis and methionine administration: Basis for a favourably outcome in a patient with methylene tetrahydrofolate reductase deficiency

Journal of Inherited Metabolic Disease

Volumn 22, Issue 3, 1999, Pages 240-242

  Abeling, N G G M ^a,c   Van Gennip, A H ^a   Blom, H ^d   Wevers, R A ^d   Vreken, P ^a   Van Tinteren, H L G ^b   Bakker, H D ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b Ziekenhuis Hilversum   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); METHIONINE;

CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; DISEASE SEVERITY; ENZYME DEFICIENCY; FEMALE; HOMOCYSTINURIA; HUMAN; HYPERHOMOCYSTEINEMIA; MENTAL DEFICIENCY; NEWBORN; ONSET AGE; SYMPTOM;

FEMALE; HOMOCYSTINURIA; HUMANS; HYPERHOMOCYSTEINEMIA; INFANT, NEWBORN; METHIONINE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; TIME FACTORS; TREATMENT OUTCOME;

EID: 0033001743     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005509400481     Document Type: Conference Paper

References (6)

1. Engbersen AM, Franken DG, Boers GH, Stevens EM, Trijbels JMF, Blom HJ (1995) Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet 56(1): 142-150.
2. Rosenblatt DS (1995) Inherited disorders of folate 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, 3111-3128.
3. Sakura N, Ono H, Nomura S, Ueda H, Fujita N (1998) Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. J Inher Metab Dis 21: 84-85.
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5. Wendel U, Bremer HJ (1984) Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. Eur J Pediatr 142(2): 147-150.
6. Wevers RA, Engelke U, Wendel U, de Jong JG, Gabreels FJ, Heerschap A (1995) Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clin Chem 41(5): 744-751.