Limited effectiveness of betaine therapy for cystathionine β synthase deficiency

Pediatrics International

Volumn 45, Issue 3, 2003, Pages 333-338

  Sakamoto, Akiko ^a   Sakura, Nobuo ^a  

^a HIROSHIMA UNIV SCHOOL OF MEDICINE   (Japan)

Author keywords

Betaine; Homocysteine; Homocystinuria; Methionine

Indexed keywords

BETAINE; CYSTATHIONINE BETA SYNTHASE; HOMOCYSTEINE; METHIONINE;

AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; DOSE RESPONSE; DRUG EFFICACY; DRUG SAFETY; FEMALE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOCYSTINURIA; HUMAN; MALE; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; TREATMENT OUTCOME;

BETAINE; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; FEMALE; FOLLOW-UP STUDIES; HOMOCYSTEINE; HOMOCYSTINURIA; HUMANS; INFANT, NEWBORN; MALE; METHIONINE; TREATMENT OUTCOME;

EID: 0043165033     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200X.2003.01714.x     Document Type: Article

References (12)

1. Walter JH, Wraith JE, White FJ, Bridge C, Till J. Strategies for the treatment of cystathionine β-synthase deficiency. Eur. J. Pediatr. 1998; 157 Suppl. 2: S71-6.
2. Yamaguchi A, Tagami Y, Fukushi M, Oda H, Fujita K. Application of high-performance liquid chromatography with AccQTag precolumn derivatization to the screening for inborn errors of metabolism. J. Jap. Soc. for Mass-Screening 1998; 8: 21-8.
3. Ono H, Sakamoto A, Eguchi T et al. Plasma total homocysteine concentrations in epileptic patients taking anticonvulsants. Metabolism 1997; 46: 959-62.
4. Sakura N, Ono H, Nomura S, Ueda H, Fujita N. Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. J. Inher. Metab. Dis. 1998; 22: 84-5.
5. Naughten ER, Yap S, Mayne PD. Newborn screening for homocystinuria. Eur. J. Pediatr. 1998; 157 Suppl. 2: S84-7.
6. Bosy-Westphal A, Petersen S, Hinrichsen H, Czech N, Müller MJ. Increased plasma homocysteine in liver cirrhosis. Hepatol. Res. 2001; 20: 28-38.
7. Chiarrelli F, Pomilo M, Mobn A et al. Homocysteine levels during fasting and after methionine loading in adolescents with diabetic retinopathy and nephropathy. J. Pediatr. 2000; 137: 386-92.
8. Ogier de Baulny H, Gérard M, Saudubray JM, Zittoun J. Remethylation defects: guidelines for clinical diagnosis and treatment. Eur. J. Pediatr.: 157. 1998; 157 Suppl. 2: S77-83.
9. Skiba WE, Taylor MP, Wells MS, Mangum JH, Awad WM. Human hepatic methionine biosynthesis. Purification and characterization of Betaine: homocysteine S-methyltransferase. J. Biol. Chem. 1982; 257: 14 944-8.
10. Ito M. Mass-screening of inborn errors of metabolism: homocystinuria. J. Pediatric Prac. 2000; 63: 1329-33.
11. Finkelstein JD. The metabolism of homocysteine: pathways and regulation. Eur. J. Pediatr. 1998; 157 Suppl. 2: S40-4.
12. Kluijtmans LAJ, Boers GHJ, Kraus JP et al. The molecular basis cystathionine β synthase deficiency in Dutch Patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. Am. J. Genet. 1999; 65: 59-67.