Saudi experience with classic homocystinuria

Annals of Saudi Medicine

Volumn 18, Issue 3, 1998, Pages 230-233

  Al Essa, M ^a   Rashed, M ^a   Ozand, P T ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

Autosomal recessive disorders; Homocystinuria; Inborn errors of metabolism

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; FIBRILLIN; METHIONINE; PYRIDOXINE;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD LEVEL; BONE DISEASE; BRONCHIECTASIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DRUG EFFICACY; EARLY DIAGNOSIS; ECTOPIA LENTIS; ENZYME ACTIVITY; ENZYME DEFICIENCY; FAMILY HISTORY; FEMALE; GASTROINTESTINAL HEMORRHAGE; HOMOCYSTINURIA; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; LENS LUXATION; LUNG LOBECTOMY; MALE; MENTAL DEFICIENCY; NEUROPHYSIOLOGY; PRIORITY JOURNAL; RADIODIAGNOSIS; SAUDI ARABIA; SEIZURE; TANDEM MASS SPECTROMETRY; THROMBOEMBOLISM; VASCULAR DISEASE;

EID: 0031688182     PISSN: 02564947     EISSN: None     Source Type: Journal    
DOI: 10.5144/0256-4947.1998.230     Document Type: Article

References (28)

1. Carson NAJ, Neili DW. Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch Dis Child 1962;37:505.
2. Mudd SH. Biochemical mechanisms in methyl group transfer. In: Fistman WD, editor. Metabolic conjugation and metabolic hydrolysis. New York: Academic Press, 1974:297.
3. Streeten BW. Pathology of the lens. In: Albert D, Jakobiec F, editors. Principles and practice of ophthalmology. Philadelphia: W.B. Saunders, 1993.
4. Byers PB. Disorders of collagen biosynthesis and structure. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 6th edition. New York: McGrawHill, 1995;4029-78.
5. Dunn HG, Perry TL, Dolman CL. Homocystinuria. Neurology 16:407;1966.
6. Pullan LM, Olney JW, Price MT, Compton RP, Hood WF, Michel J, Monahan JB. Excitatory amino acid receptor potency and subclass specificity of sulfur containing amino acids. J Neurochem 1987;49:1301-7.
7. Kim JP, Koh J-Y, Choi DW. L-homocysteate is a potent neurotoxin on cultured cortical neurons. Brain Res 1987;437:103-10.
8. Rashed MS, Ozand PT, Bucknall MP, Little D. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res 1995;38:324-31.
9. Rashed MS, Ozand PT, Harrison ME, Watkins PJF, Evans S. Electrospray tandem mass spectrometry in the diagnosis of organic acidemias. Rapid Commun Mass Spectrum 1994;8:129-33.
10. Behrmann RE, Kliegman RM, Nelson WE, Vaughan VC. Nelson textbook of pediatrics. 14th edition. New York: W.B. Saunders Co., 1992;312-4.
11. McCully KS. Vascular pathology of homocysteinemia: implication for the pathogenesis of arteriosclerosis. Am J Pathol 1969;56:111-28.
12. Graeber JE, Slott JH, Ulane RE, Schulman JD, Stuart MJ. Effect of homocysteine and homocystine on platelet and vascular arachidonic acid metabolism. Pediatr Res 1982;16:490-3.
13. Wang J, Dudman NPB, Wicken DEL, Lynch JF. Homocysteine catabolism: levels of three enzymes in cultures of human vascular endothelium and their relevance to vascular disease. Atherosclerosis 1992;97:97-106.
14. De Groot PG, Willems C, Boers GHJ, Gonsalves MD, Van Aken WG, Van Mourik JA, Endothelial cell dysfunction in homocystinuria. Eur J Clin Invest 1983;13:405-10.
15. Van Meldergem L, Capel P, Boeynaems J-M. Increased prostacyclin synthesis in a patient with homocystinuria. Euro J Pediatr 1990;149:666-7.
16. Rodgers GM, Kane WH. Activation of endogenous factor V by a homocysteine-induced vascular endothelial cell activator. J Clin Invest 1986;77:1909-16.
17. Rodgers GM, Conn MT. Homocysteine, and atherogenic stimulus, reduces protein C activation by arterial and venous endothelial cells. Blood 1990;75:895-901.
18. Hayashi T, Honda G, Suzuki K. An atherogenic stimulus: homocystine inhibits cofactor activity of thrombomodulin and enhances thrombomodulin expression in human umbilical vein endothelial cells. Blood 1992;79:2930-6.
19. Bickell H. Neonatal mass screening for inborn errors of metabolism. In: Recent progress in perinatal medicine and prevention of congenital anomaly. Tokyo: IYC Congress, Ministry of Health and Welfare, Government of Japan, Medical Information Service, October 21-22, 1979;260.
20. Maddocks JL, MacLachlan J. Application of new fluorescent thiol reagent to diagnosis of homocystinuria. Lancet 1991;338:1043-4.
21. Rashed MS, et al. Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clinical Chemistry 1997;43:1129-41.
22. Task Force on Dietary Management of Metabolic Disorders. Report to FDA Contract. 2372-2304. Committee on Nutrition, American Academy of Pediatrics, 1985.
23. Barber GW, Spaeth GL. The successful treatment of homocystinuria with pyridoxine. J Pediatr 1969;75:463-78.
24. Perry TL, Homocystinuria. In: Nyhan WL, editor. Inheritable disorders of amino acid metabolism. New York: Wiley, 1974;395.
25. 12. Proc Soc Exp Biol Med 1968;129:327-33.
26. Gaull GE, Rassin DK, Sturman JA. Pyridoxine-dependency in homocystinuria. Lancet 1968;2:1302.
27. Wilcken B, Turner B. Homocystinuria: reduced folate levels during pyridoxine treatment. Arch Dis Chil 1973;48:58-62.
28. Smolin LA, Benevenga NJ, Berlow S. The use of betaine for the treatment of homocystinuria. J Pediatr 1981;99:467-72.