intro-to-HCU Gives a very good introduction. Tells about causes, incident and risk factors. 
definition-of-HCU Definition of Homocystinuria

Dr. Richard Koch 

Professor of Clinical Pediatrics 

USC School of Medicine 

Los Angeles, California 

 

Honorary member of the Staff

Children's Hospital of Los Angeles 

The driving force behind this, without whom I wouldn't be where I am now. 
www.lowprotein.com A lot of delicious low protein recipes                                                  
 Dr Sufin Yap from Dublin, Ireland http://www.orpha.net/data/patho/GB/uk-CbS.html
 
 

 

References
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54. Regenbogen L, Ilie S, Elian I. Homocystinuria, a surgical and anaesthetic risk. Metab Pediatr Ophthalmol 1980; 4: 209-11.

55. Jackson GM, Grisolia JS, Wolf PL, Jones OW, Bloor CM. Postoperative thromboemboli in cystathionine  b-synthase deficiency. Am Heart J 1984; 108: 627-8.

56. Gaull GE, Sturman JA, Schaffner F. Homocystinuria due to cystathionine synthase deficiency: enzymatic and ultrastructural studies. J Pediatr 1974; 84: 381-90.

57. Abbott MH, Folstein SE, Abbey H, Pyeritz RE. Psychiatric manifestations of homocystinuria due to cystathionine  b-synthase deficiency. Am J Med Genet 1987; 26: 959-69.

58. Yap S, Naughten ER, Wilcken B, Wilcken DEL, Boers GH. Vascular complications of severe hyperhomocysteinaemia in patients with homocystinuria due to cystathionine b-synthase deficiency: effects of homocysteine-lowering therapy. Semin Thromb Hemost 2000; 26: 335-340.

59. Yap S. Early detection and commencement of dietary treatment alters the morbid natural history of patients with severe hyperhomocysteinaemia due to cystathionine b-synthase deficiency. Doctor of Medicine Thesis, Royal College of Surgeons in Ireland/National University of Ireland 2000; Chapter 3: 17.

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64. Byrd VJ, Heinbokel H, Schweitaer S, Brodehl J. Evaluation of oral L-cysteine for treatment of cystine deficiency in homocystinuria. In: Abstracts of the Third international Symposium on inborn errors of metabolism in humans. Munich: Karger,1984: 194.

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67. Yap S, Boers GHJ, Wilcken B, Wilcken DEL, Brenton DP, Lee PJ, Walter JH, Howard PM, Naughten ER. Vascular outcome in patients with homocystinuria due to cystathionine b-synthase deficiency treated chronically: A multicenter observational study. Arterioscler Thromb Vasc Biol 2001; 21: 2080-5.

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72. Komrower GM, Sardharwalla IB. The dietary treatment of homocystinuria. In: Carson NAJ, RAIne DN, eds. Inherited disorders of sulphur metabolism. Edinburgh: Churdhill-Livingston 1971:254-63.

73. Perry TL, Hansen S, Love DL, Crawford LE, Tischler B. Treatment of homocystinuria with a low-methionine diet, supplemental cystine, and a methyl donor. Lancet 1968; 2: 474-8.

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84. Wall RT, Harlan JM, Harker LA, Striker GE. Homocysteine-induced endothelial cell injury in vitro: a model for the study of  vascular injury. Thromb Res 1980; 18: 113-21.

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86. Harker LA, Scott CR. Platelets in homocystinuria.  (letter) NEJM 1977; 296; 818.

87. Harker LA, Ross R. Sulphydryl-mediated vascular disease. Eur J Clin Invest 1978; 8: 199.

88. Schulman JD, Agarwal B, Mudd SH, Shulman NR. Pulmonary embolism in a homocystinuric patient during treatment with dipyridamole and acetylsalicylic acid. NEJM 1978; 299; 661.

89. Schulman JD, Mudd SH, Shulman NR, Landvater L. Pregnancy and thrombophlebitis in homocystinuria. Blood 1980; 56; 326.

90. Schoonderwaldt HC, Boers GHJ, Cruysberg JKM, Schulte BPM, Slooff JL, Thijssen HOM. Neurologic manifestations of homocystinuria. Clin Neurol Neurosurg 1981; 83; 153-62.

91. Grobe H. Homocystinuria and oral contraceptives. Lancet 1978; 1: 158-9.

92. McCully KS. Homocystine, atherosclerosis and thrombosis: implications for oral contraceptives users. Am J Clin Nutr 1975; 28: 542-9.

93. Steegers-Theunissen RPM, Boers GHJ, Steegers EA, Trijbels FJM, Thomas CMG, Eskes TKAB. Effects of sub-50 oral contraceptives on homocysteine metabolism: A preliminary study. Contraception 1992; 45; 129-39.

94. Perry TL, Hansen S, MacDougall L. Urinary screening tests in the prevention of mental deficiency. Can MAJ 1966; 95: 89-95.

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96. Levy HL, Mudd SH, Uhlendorf BW, Madigan PM. Cystathioninuria and homocystinuria. Clin Chem Acta 1975; 58: 51-9.

97. Levy HL, Mudd SH. Homocystinuria due to bacterial contamination in pyridoxine-unresponsive cystathioninemia. Pediatr Res 1973; 7: 390 (abstract).

98. Spaeth GL, Barber GW. Homocystinuria in a mentally retarded child and her normal cousin. Trans Acad Ophthalmol Oto-laryngol 1965; 69: 912-30.

99. Drayer JIM, Cleophas AJM, Trijbels JMF, Smals AGH, Kloppenborg PWC. Symptoms, diagnostic pitfalls, and treatment of homocystinuria in seven adult patients. Neth J Med 1980; 23: 89-94.

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103. Perry TL, Hansen S, Bar HP, MacDougall L. Homocystinuria: Excretion of a new sulphur containing amino acid in urine. Science 1966; 152: 776.

104. Boers GHJ, Smals AGH, Drayer JIM, Trijbels FJM, Leermakers AI, Kloppenborg PWC. Pyridoxine treatment does not prevent homocystinemia after methionine loading in adult homocystinuria patients. Metabolism 1983; 32: 390-7.

105. Uhlendorf  BW, Conerly EB, Mudd SH. Homocystinuria: studies in tissue culture. Pediatr Res 1973; 7: 645-58.

106. Fowler B, Kraus J, Packman S, Rosenberg LE. Homocystinuria: Evidence for 3 distinct classes of cystathionine b-synthase mutants in cultured fibroblasts. J Clin Invest 1978; 61: 645-53.

107. Hemraj F, Griffiths R. Enzyme studies in cystathionine b-synthase deficiency: a possible effect of elevated intracellular levels of homocystine in kinetic studies.
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108. Bittles AH, Carson NAJ. Homocystinuria: studies on cystathionine b-synthase, S-adenosylmethionine synthase and cystathionase activities in skin fibroblasts.
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109. Boers GHJ, Smals AGH, Trijbels JMF, Schoonderwaldt HC, Bakkeren JAJM, Kleyer WJ, Fowler B, Kloppenborg PWC. High frequency of heterozygotes for homocystinuria in premature occlusive peripheral and cerebral vascular disease. New Eng J Med 1985; 313: 709-15.

110. Fowler B, Sardharwalla IB. Homocystinuria: cystathionine synthase activity in cultured skin fibroblasts: In: International Symposium on inborn errors of metabolism in humans, Switzerland 1980: 20.

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112. Fowler B, Borresen AL, BomanN. Prenatal diagnosis of homocystinuria. Lancet 1982; 2: 875.

113. Burke G, Robinson K, Refsum H, Stuart B, Drumm J, Graham I. Intrauterine growth retardation, perinatal death and maternal homocysteine levels. N Engl J Med 1992; 326: 69.

114. Mudd SH. Discussion, in Carson NAJ, Raine DN (eds): Inherited Disorders of sulphur metabolism. London Churchill Livingstone, 1971, p 311.

115. Rassin DK, Longhi RC, Gaull GE. Free amino acids in liver of patients with homocystinuria due to cystathionine synthase: effects of vitamin B6. J Pediatr 1977; 91: 574-7.

116. Fleisher LD, Longhi RC, Tallan HH, Beratis NG, Hischhorn K, Gaull GE. Homocystinuria: investigations of cystathionine synthase in cultured fetal cells and the prenatal determination of genetic status. J Pediatr 1974; 85: 677-80.

117. Kurczynski TW, Muir WA, Fleisher LD, Palomaki JK, Gaull GE, Rassin DK, Abramowsky C. Maternal homocystinuria: studies of an untreated mother and fetus. Arch Dis Child 1980; 55: 721-3.

118. Mulvihill A, Yap S, Naughten ER, Howard PM, O’Keefe M. Ocular findings among patients with late-diagnosed or poorly controlled homocystinuria compared to a screened well-controlled population. J Am Assoc Pediat Ophthal & Strab 2001; 5: 311-5.

119. Yap S, Rushe H, Howard PM, Naughten ER. The intellectual abilities of early-treated individuals with pyridoxine nonresponsive homocystinuria due to cystathionine b-synthase deficiency. J Inher Metab Dis 2001; 24: 437-47.

120. Walter JH, Wraith JE, White FJ, Bridge C, Till J. Strategies for the treatment of cystathionine b-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years. Eur J Padiatr 1998; 157 (Suppl 2): S71-6.

121. Yap S, O’Donnell KA, O’Neill C, Mayne PD, ThorntonP, Naughten ER. Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine b-synthase deficiency. Thromb Haemost 1999; 81: 502-5.
 
  

 This paper should be referenced as such :
Yap S. Homocystinuria due to cystathionine b-synthase deficiency. Orphanet encyclopedia, May 2003:
http://www.orpha.net/data/patho/GB/uk-CbS.html

Address for correspondence:
Dr Sufin YAP
National Centre for Inherited Metabolic Disorders,
The Children's University Hospital,
Temple Street, Dublin 1, and,
Our Lady's Hospital for Sick Children,
Crumlin,
Ireland.