Binnur Tzn MDzel apa Hastanesi Necip As154m sokak 23 - PDF document

Binnur Tüzün, MD,Özel Çapa Hastanesi, Necip Asšm sokak, 23 Çapa-Istanbul-Turkey Review Published:J Turk Acad Dermatol2010; 4 (1): 04102rThis article is available from: http://www.jotad.org/2009/4/jotad04102r.pdfmethionine, cysteine, homocystein, dietAbstract Background:Methionine restricted diet prevents homocystinuria complications, seems like Marfansyndrome. Homocystinuria is a metabolism disease but Marfansyndrome is a genetic disorderhave similar symptoms. But only homocystinuria have neuropsycologic abnormalities and highmethionine levels. Homocystein is an intermediate oxidized product, transform both of methionine IntroductionDiet plays an important role on the body mo-lecular composition. Gout, diabetes, hyper-The clues from the patients have these disea-ses, leads to dermatologists to search thecence of extracted DNA1]. The clues from ho-mocystinuria support cancer, diabetes,aging research as a methylating status [2Marfan Syndrome and Marfanoid Personswith HomocystinuriaMarfan syndrome is an autosomal dominant,elastic fibril disease have an unique phenoty-tus carinatus, scolyosis, arachnodactyly [34,5], aorta and hearth diseases, ocular finding5, 6], intracranialhypertension, respiratory function disordersbecause of fibrillin-1 genetic defect [7, 8, 9,10, 11]. Homozygotic persons have severalfeatures of the syndrome, besides heterozy-gotic persons have only few features [12The most of the marfanoid persons showshomocystinuria or homocystinuria withPage 1 of 4(page number not for citation purposes) 7, 9, 13, 14] .Biochemistry of Homocystein MetabolismBlood homocystein and methionine levelsare increased and cystein level is decreasedin homocystinuria generally. Homocystin,composed of two homocystein molecule bythe way of reduction, is an oxydized inter-mediate product. The source of homocysteinis generally methionine. Homocystein trans-forms to cystein or methionine by the two-way. Whether homocy

stein and serin arecomposed of cystein, or partly is also showsremetylation of homocystein to methionineby the catalyse of B12(cyanocobalamin) andfolate in healthy persons [15, 16, 17]. Butthe patients with homocystinuria blood ho-mocysteine levels are found high as a inter-mediate oxydizing status. Harmful effects of homocystein appears inthe result of the production of oxydants andaccumulation of disulphydes in the blood.The production of oxydants occurs while re-duction of homocystein to homocystin andthe accumulation of disulphydes while thereaction of homocystein with protein thiolgroups. The most reactive product is thiolac-ton along this pathway [15].Cystationin-beta synthase deficiency or ca-talyse deficiency by B6 (pyridoxin) shows ho-mocysteinemia and methioninemia, andmental retardation and seizures appears inhomocystinuria Type 1. Eye damage also oc-curs in the result of deficiency in glutathionsynthesis as a antioxydant agent, because oflow cystein levels [18]. Homocysteinemia but low methionin levelsoccurs in type 2, 3, 4 homocystinuria andthese patiens do not have mental retardationnor seizures [19, 20].Type1 homocystinuria is a rare disease andtreated with vitamin B6 and cystein [18].Other types of homocystinuria seems morefrequently, and improve with vitamin B12and folate or sometimes diet with methioninbecause of methionin synthetase deficiency[19]. Another treatment choice is betain= tri-methylgliserid (Cystadone 4g/180 ml]) also amethylating agent [20, 21, 22] .Enzyme Defects Until today, some enzyme defects are definedon homocystinuria patients.1. Methylene tetrahydrofolate reductase defi-defi-agent] in diet or as a drug. Other enzymedefects lead to low methionin levels aremethionin synthase and methioninsynthase reductase deficiency [19, 23, 24,25, 26].2. Cystathionin beta synthase deficiency (type(type21, 24,25, 26, 27, 28]. 3. Transcobalamin deficiency: deficiency: 1, 6, 29,3

0, 31, 32].4. Adenosyl methionin transferase defici- 33]. Other diseases with homocystinuriaHomocystinuria was found in several diseaseand syndrome as Behçet's disease, diabetes,metabolic syndrome, cardiovascular disea-ses, thrombosis [34, 35, 36, 37, 38] mentalillnes, nephropathia but still in discussion.Although, marfanoid persons have exactly re-lated homocystinuria and the treatment ofhomocystinuria is also changed phenotype[2, 39]. Because of these reasons, homocys-tinuriatest is involved in newborn screeningpanel, recently [40, 41, 42, 43].Excel Diet for HomocystinuriaMethionine restricted diet is need to avoidthese foods, contain methionine: meat, fish,yogurt, beans, eggs, onion, garlic, lentils, se-same seeds, wheatgerm, soy protein concen-trate, oat, peanuts, corn yellow, rice brown.Methionine resticted diet have supportedlonger life span in experimental animal stu-dies.Patients can consume these foods containcysteine: poultry, wheat, broccoli, red pepper[44]. Onion, garlic, eggs are also contain both ofcysteine and methionine. Cystathionin is composed of methionine andserin by cystathionin beta synthase [27] andtransform to cysteine by cystathionin gammalysase. Cysteine is nonessential aminoacidbut may be essential in newborn, olders, ma-labsorption and metabolic syndromes [15].The respectable antioxydant gluthation iscomposed of cysteine, glycine and glutamicacid and prevents lens dislocation in thissyndrome [5, 15].References1. Cook S, Hess OM. Homocysteine and B vitamins.2. Aguirre Errasti C, Egurbide Arberas MV, Martínez3. Wang XS, Zhang JG, Qiu GX, et al. Clinical diagnosis4. Maillot F, Kraus JP, Lee PJ. Environmental influen-5. Kanigowska K, Gra›ek M. Lens dislocation in child-6. Gerth C, Morel CF, Feigenbaum A, Levin AV. Ocular7. Varlibas F, Cobanoglu O, Ergin B, Tireli H. Different8. Hubmacher D, Cirulis JT, Miao M, et al. FunctionalHubmacher D, Cirulis

JT, Miao M, et al. Functional9. Heil SG, Hogeveen M, Kluijtmans LA et al. Marfanoid10. Whiteman P, Hutchinson S, Handford PA. Fibrillin-112. Elsaid MF, Bener A, Lindner M, et al. Are heterocy-13. Gherasim C, Rosenblatt DS, Banerjee R. Polymorphic14. Sinclair AJ, Barling L, Nightingale S. Recurrent15. Elshorbagy AK, Nurk E, Gjesdal CG, et al. Homocys- 17. Alberto JM, Hamelet J, Noll C, et al. Mice deficient in18. Clayton PT. B6-responsive disorders: a model of vi-19. McCully KS.Homocysteine, vitamins, and vascular20. Ucar SK, Korolu OA, Berk O, et al. Titration of be-Ucar SK, Korolu OA, Berk O, et al. Titration of be-PMID: 1943442421. Yokoi K, Ito T, Ohkubo Y, et al. Long follow up of be-22. Lawson-Yuen A, Levy HL The use of betaine in the23. Birnbaum T, Blom HJ, Prokisch H, et al. Methylene-24. Jakubowski H, Boers GH, Strauss KA. Mutations in25. Bishop L, Kanoff R, Charnas L, et al. Severe methy-26. Cohen Aubart F, Sedel F, Papo T. Cystathionine be-27. Skovby F, Gaustadnes M, Mudd SH. A revisit to theSkovby F, Gaustadnes M, Mudd SH. A revisit to the28. Rao TN, Radhakrishna K, Mohana Rao TS, Gurupra-sad P, Ahmed K. Homocystinuria due to cystathio-nine beta synthase deficiency. Indian J DermatolVenereol Leprol 2008; 74: 375-378. PMID: 1879706229. Richard E, Jorge-Finnigan A, Garcia-Villoria J, et al.30. Froese DS, Zhang J, Healy S, Gravel RA. Mechanism33. Couce ML, Bóveda MD, Castiñeiras DE, et al. Hyper-36. Bendini MG, Lanza GA, Mazza A, et al. Risk factors37. Quéré I, Gris JC, Dauzat M. Homocysteine and ve-39. Azzabi S, Barhoumi A, Omar S, et al. Late revelation40. Gan-Schreier H, Kebbewar M, Fang-Hoffmann J, et41. Weisfeld-Adams JD, Morrissey MA, Kirmse BM, et al.Weisfeld-Adams JD, Morrissey MA, Kirmse BM, et al.42. Alfonso I, Charria G. Updating neonatal neurometa-43. Kaye CI, Accurso F, La Franchi S, et al. Newborn44. Lee PJ, Briddon A. A rationale for cystine suppleme