References
-
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. - Makris M, Hyperhomocysteinemia and thrombosis. Clin Lab Haem 2000;22:133-43. https://doi.org/10.1046/j.1365-2257.2000.00301.x
- Mudd SH, Vascular disease and homocysteine metabolism. N Eng J 1985;313:751-3. https://doi.org/10.1056/NEJM198509193131210
- Mudd SH, Levy HL, Kraus JP, Disorders of transsulfuration. In : Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Basis of Inherited Disease. 4th ed. New York : McGraw-Hill 2001:2007-56.
- Jackson SH, The reaction of homocysteine with aldehyde : an explanation of the collagen defects in homocystinuria. Clin Chim Acta 1973;45:215-7. https://doi.org/10.1016/0009-8981(73)90429-4
- Majors AK, Pyeritz RE, A deficiency of cysteine impairs fibrillin-1 deposition : implications for the pathogenesis of cystathionine beta-synthase deficiency. Mol Genet Metab 2000;70:252-60. https://doi.org/10.1006/mgme.2000.3024
- Hill CH, Mecham R, Starcher B, Fibrillin-2 defects impair elastic fiber assembly in a homocysteinemic chick model. J Nutr 2002;132:2143-50. https://doi.org/10.1093/jn/132.8.2143
- Lim JS, Lee DH, Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency.Osteoporos Int 2013;24:2535-8. https://doi.org/10.1007/s00198-013-2351-4
- Testai FD, Gorelick PB, Inherited metabolic disorders and stroke part 2 : homocystinuria, organic acidurias, and urea cycle disorders. Arch Neurol 2010;67:148-53.
- Lee SJ, Lee DH, Yoo HW, Koo SK, Park ES, Park JW, et al. Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. J Hum Genet 2005;50: 648-54. https://doi.org/10.1007/s10038-005-0312-2
- Park SY, Kim DI, Lee DH, A cost-benefit analysis of neonatal screening tests for maple syrup urine disease, homocystinuria, galactosemia and congenital adrenal hyperplasia. J Genet Med 2008;5:111-8.
- Kruger WD, Wang L, Jhee KH, Singh RH, Elsas LJ, Cystathionine beta-synthase deficiency in Georgia (USA) : correlation of clinical and biochemical phenotype with genotype. Hum Mutat 2003;22: 434-41. https://doi.org/10.1002/humu.10290
- Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, et al. Cystathionine beta-synthase mutations in homocystinuria. Hum Mutat 1999;13: 362-75. https://doi.org/10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K
- Chen S, Ito M, Saijo T, Naito E, Kuroda Y, Molecular genetic analysis of pyridoxine non- responsive homocystinuric siblings with different blood methionine levels during the neonatal period. J Med Invest 1999;46:186-91.
- Sebastio G, Sperandeo MP, Panico M, de Franchis R, Kraus JP, Andria G, The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families and report of four novel mutations. Am J Hum Genet 1995;56:1324- 33.
- Franchis R, Kraus E, Kozich V, Sebastio G, Kraus JP, Four novel mutations in the cystathionine betasynthase gene : effect of a second linked mutation on the severity of the homocystinuric phenotype. Hum Mutat 1999;13:453-7. https://doi.org/10.1002/(SICI)1098-1004(1999)13:6<453::AID-HUMU4>3.0.CO;2-K
- Dawson PA, Cox AJ, Emmerson BT, Dudman NP, Kraus JP, Gordon RB, Characterization of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria. Eur J Hum Genet 1997;5:15-21.
- Wei Q, Wang L, Wang Q, Kruger WD, Dunbrack RL Jr., Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase. Proteins 2010;78:2058-74.
- Naughten ER, Yap S, Mayne PD, Newborn screening for homocystinuria : Irish and world experience. Eur J Pediatr 1998;157 Suppl 2:S84-7.
- Gan-Schreier H, Kebbewar M, Fang-Hoffmann J, Wilrich J, Abdoh G, Ben-omran T, et al. Newborn population screening for classic homocystinuria by determination of total homocysteine from guthrie cards. J Pediatr 2010;156:427-32. https://doi.org/10.1016/j.jpeds.2009.09.054
- Madhulika K, Dietary management of inborn errors of metabolism. Indian J Pediatr 2002;60:421-6.
- Wilcox G, Strauss BJ, Francis DE, Upton H, Boneh A, Body composition in young adults with inborn errors of protein metabolism-a pilot study. J Inherit Metab Dis 2005;28:613-26. https://doi.org/10.1007/s10545-005-0036-7
- Spiekerman AM, Nutritional assessment (protein nutriture). Anal Chem 1995;67:429-36. https://doi.org/10.1021/ac00108a026
- Zeisel SH, Blusztajn JK, Choline and human nutrition. Annu Rev Nutr 1994;14:269-96. https://doi.org/10.1146/annurev.nu.14.070194.001413
- Chern MK, Pietruszko R, Evidence for mitochondrial localization of betaine aldehyde dehydrogenase in rat liver : purification, characterization and comparison with human cytoplasmic E3 isozyme. Biochem Cell Biol 1999;77:179-87. https://doi.org/10.1139/o99-030
- Burg MB, Molecular basis of osmotic regulation. Am J Physiol 1995;268:F983-96.
- Caldas T, Demont N, Ghazi A, Richarme G, Thermoprotection by glycine betaine and choline. Microbiology 1999;145:2543-8. https://doi.org/10.1099/00221287-145-9-2543
- Wilcken DE, Wilcken B, The natural history of vascular disease in homocystinuria and the effects of treatment. J Inherit Metab Dis 1997;20:295-300. https://doi.org/10.1023/A:1005373209964
- Yaghmai R, Kashani AH, Geraghty MT, Okoh J, Pomper M, Tangerman A, et al. Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency. Am J Med Genet 2002;108:57-63. https://doi.org/10.1002/ajmg.10186
- Devlin AM, Hajipour L, Gholkar A, Fernandes H, Ramesh V, Morris AA, Cerebral edema associated with betaine treatment in classical homocystinuria. J Pediatr 2004;144:545-8. https://doi.org/10.1016/j.jpeds.2003.12.041