Abstract
Methylmalonic acidemia is a frequent, otosomal resessive inherited disorder of organic acid metabolism. In this disorder, the accumulation and excretion of methylmalonic acid and its metabolites are increased. The patients are treated with a diet, low in isoleucin, valin, methionin and treonin and with supplementation of biotin, kobalamine and L-carnitene. The survival and neurologic outcome in methylmalonic acidemia is determined by the biochemical response to pharmacological doses of cobalamine and the age of onset of symptoms. We report a case with methylmalonic acidemia presented with poor sucking, vomitting, ketoacidosis, profound hypotonia beginning from the first day of life with the data from the literature.
References
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- 3. Oberholzer VG, Levin B, Burgess EA et all. Methylmalonic aciduria :an inborn error of metabolism leading to chronic acidosis . Arch Dis Child 1967;42:492-504
- 4. Saudubray J-M,Charpentier C.Clinical phenotypes: Diagnosis/Algorithms .İn: Scriver DC, BeaudetT,eds. The Metabolic & Molecular Bases of inherited DiseaseVolume 1. 8th ed.Mc Graw-Hill 2001; 1327-1348
- 5. Demirkol M ,Baykal T ,Hüner G. Doğumsal Metabolizma Hastalıklarına Yaklaşım. Neyzi O,Ertuğrul T(Ed). Pediatri Cilt 1 .İstanbul Nobel Tıp Kitabevleri 2002; 651-688. 6. Wraith J.E. inborn Errors of Metabolism in the Neonate. İn: Bennie J.M, Roberton N.R.C. Eds.Textbook of Neonatology. 3rd edition. Edinburgh. Churchill Livinstone 1999; 986-1002
- 7. Hüner G. Doğumsal Metabolizma Hastalık Açısından ne zaman ve hangi tetkikler istenmeli? Çocuk Dergisi 2001;1:189-195
- 8. Rezvanil, Rosenblatt D. S. An Approach to inborn Errors. İn -.Behrman, Kliegman, eds..Nelson Textbook of Pediatrics. 16th edition.Pennsylvania
- W.B.Sounders Company. 2000; 343-344
- 9. Çelebi H, Kamacı M, Kahramanoğlu İ. Metilmalonik Asidemi : Olgu Sunumu. Klinik Bilimler ve Doktor 2002 8(3):396-97
- 10. Shigematsu X Hata I, NakaiA et all. Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines. Pediatr Res 1996 Apr; 39(4Pt1):680-684
- 11. Saudbray JM, Ogier de Baulny H, Charpentier C.Clinical approach to inherited metabolic diseases. İn: Fernandes J, Saudubray JM, Van de Berghe(eds).inborn Metabolic Disease.Diagnosis and Treatment. 3rd edition. Berlin Springer Verlag: 2000; 1-43
- 12. Nikolaides P, Leonard J, Surtees R. Neurological outcome of methylmalonic acidemia . Arch Dis Child 1998;78:508-512
Abstract
Metilmalonik asidemi, organik asit metabolizmasının sık rastlanan otosomal resessif geçişli kalıtsal bir hastalığıdır. Hastalıkta metilmalonik asit ve metabolitlerinin atılım ve birikimi artmıştr. Hastalara izolösin, valin, treonin ve metioninden fakir diyet, L-karnitin, biotin ve kobalamin replasman tedavisi uygulanmaktadır. Hastalığın sağkalım ve nörolojik prognozu kobalamine verilen biyokimyasal yanıt ve semptomların başlangıç yaşma bağlıdır. Birinci günden itibaren kusma, emmeme, belirgin hipotoni ve ketoasidoz tablosu ile belirti veren olgumuz, metilmalonik asidemi tanısı alarak literatür bilgileri eşliğinde sunulmuştur.
References
- 1. Aydın A. Metabolizma Hastalıkları.İn: Onat T,ed. Çocuk Sağlığı ve Hastalıkları. Ciltl.Nobel Tıp Kitabevi 1999; 294-385 2. Kalkanoğlu SH, Coşkun T. Propiyonat Metabolizması Bozukluklarında İzlem. İn: Özalp İ, Tuncer M, eds. Katkı Pediati Dergisi 1999; 20(4), 465-476
- 3. Oberholzer VG, Levin B, Burgess EA et all. Methylmalonic aciduria :an inborn error of metabolism leading to chronic acidosis . Arch Dis Child 1967;42:492-504
- 4. Saudubray J-M,Charpentier C.Clinical phenotypes: Diagnosis/Algorithms .İn: Scriver DC, BeaudetT,eds. The Metabolic & Molecular Bases of inherited DiseaseVolume 1. 8th ed.Mc Graw-Hill 2001; 1327-1348
- 5. Demirkol M ,Baykal T ,Hüner G. Doğumsal Metabolizma Hastalıklarına Yaklaşım. Neyzi O,Ertuğrul T(Ed). Pediatri Cilt 1 .İstanbul Nobel Tıp Kitabevleri 2002; 651-688. 6. Wraith J.E. inborn Errors of Metabolism in the Neonate. İn: Bennie J.M, Roberton N.R.C. Eds.Textbook of Neonatology. 3rd edition. Edinburgh. Churchill Livinstone 1999; 986-1002
- 7. Hüner G. Doğumsal Metabolizma Hastalık Açısından ne zaman ve hangi tetkikler istenmeli? Çocuk Dergisi 2001;1:189-195
- 8. Rezvanil, Rosenblatt D. S. An Approach to inborn Errors. İn -.Behrman, Kliegman, eds..Nelson Textbook of Pediatrics. 16th edition.Pennsylvania
- W.B.Sounders Company. 2000; 343-344
- 9. Çelebi H, Kamacı M, Kahramanoğlu İ. Metilmalonik Asidemi : Olgu Sunumu. Klinik Bilimler ve Doktor 2002 8(3):396-97
- 10. Shigematsu X Hata I, NakaiA et all. Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines. Pediatr Res 1996 Apr; 39(4Pt1):680-684
- 11. Saudbray JM, Ogier de Baulny H, Charpentier C.Clinical approach to inherited metabolic diseases. İn: Fernandes J, Saudubray JM, Van de Berghe(eds).inborn Metabolic Disease.Diagnosis and Treatment. 3rd edition. Berlin Springer Verlag: 2000; 1-43
- 12. Nikolaides P, Leonard J, Surtees R. Neurological outcome of methylmalonic acidemia . Arch Dis Child 1998;78:508-512
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Articles |
| Authors | |
| Publication Date | March 1, 2004 |
| Published in Issue | Year 2004 Volume: 35 Issue: 2 |