Homocystinuria due to cystathionine beta synthase deficiency

Indian Journal of Dermatology, Venereology and Leprology

Volumn 74, Issue 4, 2008, Pages 375-378

  Rao, T ^a,b   Radhakrishna, K ^a   Mohana Rao, T ^a   Guruprasad, P ^a   Ahmed, Kamal ^a  

^a ANDHRA MEDICAL COLLEGE   (India)

^b Opp Sagar Lodge ^*  (India)

Author keywords

B6 responsiveness; Cutis marmorata; Cystathionine beta synthase

Indexed keywords

CYANOCOBALAMIN; CYSTATHIONINE BETA SYNTHASE; FOLIC ACID; HOMOCYSTEINE; NITROPRUSSIDE SODIUM; PYRIDOXINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CUTIS MARMORATA TELANGIECTATICA CONGENITA; HOMOCYSTINURIA; HUMAN; MALE; MENTAL DEFICIENCY; MUSCLE SPASM; PRESCHOOL CHILD; SINGLE DRUG DOSE; SKIN MANIFESTATION;

ADMINISTRATION, ORAL; CHILD, PRESCHOOL; CYSTATHIONINE BETA-SYNTHASE; DRUG ADMINISTRATION SCHEDULE; DRUG THERAPY, COMBINATION; FOLIC ACID; GENES, RECESSIVE; HOMOCYSTINURIA; HUMANS; LIVEDO RETICULARIS; MALE; METABOLISM, INBORN ERRORS; PYRIDOXINE; TREATMENT OUTCOME; VITAMIN B 12; VITAMIN B COMPLEX;

EID: 52149098871     PISSN: 03786323     EISSN: None     Source Type: Journal    
DOI: 10.4103/0378-6323.42916     Document Type: Article

References (15)

1. Mudd SH, Skovby F, Levy HL, Pettigrew KD, Wilcken B, Pyeritz RE, et al. The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet 1985;37:1-31.
2. Stabler SP, Steegborn C, Wahl MC, Oliveriusova J, Kraus JP, Allen RH, et al. Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency. Metabolism 2002;51:981-8.
3. Mudd SH, Cerone R, Schiaffino MC, Fantasia AR, Minniti G, Caruso U, et al. Glycine N-methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia. J Inherit Metab Dis 2001;24:448-64.
4. Baric I, Fumic K, Glenn B, Cuk M, Schulze A, Finkelstein JD, et al. S-adenosylhomocysteine hydrolase deficiency in a human: A genetic disorder of methionine metabolism. Proc Natl Acad Sci U S A 2004;101:4234-9.
5. Grompe M. The pathophysiology and treatment of hereditary tyrosinemia type 1. Semin Liver Dis 2001:21:563-71.
6. Mudd SH, Levy HL, Skovby F. Disorders of transsulfuration. In: Scriver CR, Beaudet al, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. Vol. 1. 7th ed. New York: McGraw-Hill; 1995. p. 1279-327.
7. Wilcken DE, Dudman NP, Tyrrell PA. Homocysteinuria due to cystathionine beta-synthase deficiency - the effects of betaine treatment in pyridoxine-responsive patients. Metabolism 1985;34:1115-21.
8. Kang SS, Wong PW, Cook HY, Norusis M, Messer JV. Protein-bound homocyst(e)ine: A possible risk factor for coronary artery disease. J Clin Invest 1986;77:1482-6.
9. Tsai MY, Bignell M, Schwichtenberg K, Hanson NQ. High prevalence of a mutation in the cystathionine beta-synthase gene. Am J Hum Genet 1996;59:1262-7.
10. Chao CL, Tsai HH, Lee CM, Hsu SM, Kao JT, Chien KL, et al. The graded effect of hyperhomocysteinemia on the severity and extent of coronary atherosclerosis. Atherosclerosis 1999;147:379-86.
11. Schnyder G, Roffi M, Pin R, Flammer Y, Lange H, Eberli FR et al. Decreased rate of coronary restenosis after lowering of plasma homocysteine levels. N Engl J Med 2001;345:1593-600.
12. Yap S, Naughten E. Homocysteinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control. J Inherit Metab Dis 1998;21:738-47.
13. Yap S, Boers GH, Wilcken B, Wilcken DE, Brenton DP, Lee PJ et al. Vascular outcome in patients with homocysteinuria due to cystathionine beta-synthase deficiency treated chronically: A multicenter observational study. Arterioscler Thromb Vasc Biol 2001;21:2080-5.
14. Lawson-Yuen A, Levy HL. The use of betadine in the treatment of elevated homocysteine. 2006 Mol Genet Metab [Epub ahead of print].
15. Schwahn BC, Hafner D, Hohlfeld T, Balkenhol N, Laryea MD, Wendel U. Pharmacokinetics of oral betaine in healthy subjects and patients with homocysteinuria. Br J Clin Pharmacol 2003;55:6-13.