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Singh RH , Kruger WD , Wang LQ , Pasquali M , Elsas LJ
Cystathionine beta-synthase deficiency: Effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria
Genetics in Medicine. 2004 Mar-Apr;6(2) :90-95
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Purpose: For treatment of cystathionine P-synthase (COS) deficiency, we determined the effect of betaine (N,N,N-trimethylglycine) therapy and examined the genotype-phenotype relationships to betaine. Methods: In five patients with B6-nonresponsive homocystinuria, we defined the CbetaS genotypes and determined metabolic responses to betaine as an additive to traditional dietary methionine restriction. Results: After betaine therapy, tHcy declined (mean 47.4 mumol/L; range: -21.2 to -104.0 mumol/L; P = 0.02), whereas total plasma cysteine and methionine did not change. Plasma methionine/tHcy ratios increased by 5.45 (range: +1.5 to 15.3; P = 0.05) inpatients with B6-nonresponsive alleles. Conclusion: Betaine improves metabolic control in B6-non responsive patients with homocystinuria after optimum dietary control.
English Article Singh, RH; Emory Univ, Sch Med, Dept Human Genet, Div Med Genet, 2040 Ridgewood Dr, Atlanta, GA 30322 USA. Research Addresses: Emory Univ, Sch Med, Dept Human Genet, Div Med Genet, Atlanta, GA 30322 USA. *Fox* *Chase* Canc Ctr, Div Populat Sci, Philadelphia, PA 19111 USA. Univ Utah, Dept Pathol, Salt Lake City, UT USA. Univ Miami, Sch Med, Dr John T Macdonald Fdn Ctr Med Genet, Miami, FL USA. Cited References: BODDIE AM, 1998, METABOLISM, V47, P207 DAWSON PA, 1997, EUR J HUM GENET, V5, P15 DUDMAN NPB, 1996, J NUTR S, V126, PS1295 ELSAS LJ, 1998, MODERN NUTR HLTH DIS, P1337 GALLAGHER PM, 1998, MOL GENET METAB, V65, P298 GAUSTADNES M, 2002, HUM MUTAT, V20, P117 GAUSTADNES M, 1999, NEW ENGL J MED, V340, P1513 GRAHAM IM, 1997, JAMA-J AM MED ASSOC, V277, P1775 KERY V, 1994, J BIOL CHEM, V269, P25283 KIM CE, 1997, HUM MOL GENET, V6, P2213 KISHI T, 1994, J INHERIT METAB DIS, V17, P560 KLUIJTMANS LAJ, 1999, AM J HUM GENET, V65, P59 KRAUS JP, 1998, GENOMICS, V52, P312 KRAUS JP, 1999, HUM MUTAT, V13, P362 KRAUS J, 1978, J BIOL CHEM, V253, P6523 KRUGER WD, 1994, P NATL ACAD SCI USA, V91, P6614 KRUGER WD, 2003, HUM MUTAT, V22, P434 MUDD SH, 1985, AM J HUM GENET, V37, P1 MUDD SH, 1995, METABOLIC BASIS INHE, P693 NYGARD O, 1997, NEW ENGL J MED, V337, P230 SAKAMOTO A, 2003, PEDIATR INT, V45, P333 SHAN XY, 1998, NAT GENET, V19, P91 SHIH VE, 1995, AM J HUM GENET, V57, P34 SMOLIN LA, 1981, J PEDIATR, V99, P467 STEEN MT, 1998, PRENATAL DIAG, V18, P545 STORCH KJ, 1991, AM J CLIN NUTR, V54, P386 SURTEES R, 1997, PEDIATR RES, V42, P577 TRONDLE U, 2001, ACTA MED AUST, V28, P145 WALTER JH, 1998, EUR J PEDIATR S2, V157, PS71 WILCKEN DEL, 1983, NEW ENGL J MED, V309, P448 WILCKEN DEL, 1997, J INHERIT METAB DIS, V20, P295 WILCKEN DEL, 1985, METABOLISM, V34, P1115 YAP S, 1998, J INHERIT METAB DIS, V21, P738 Number of cited references: 33 Number of times cited: 0 Publisher: LIPPINCOTT WILLIAMS & WILKINS; 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA. 1098-3600