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Yıl 2010, Cilt 41, Sayı 3, 161 - 165, 01.04.2010

Öz

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Kaynakça

  • 1. Wolf B, Hsia YE, Sweetman L, Gravel R, Haris DJ, Nyhan WL. Propionic acidemia: a clinical update. J Pediatr 1981; 99; 835-846
  • 2. Özalp İ, Coşkun T, Tokol S, Demircin G, Mönch E. Inherited metabolic disorders in Turkey. J Inherit Metab Dis 1990; 13; 732-738
  • 3. Fenton WA, Gravel WA, Rosenblatt DS. Disorders of propionate and methylmalonate in metabolism. In: Scriver CR Beudet AL, Sly WS, Vale D, eds. New York: McGraw-Hill, 2001; 2165-2193
  • 4. Tokatlı A, Coşkun T, Özalp İ. A retrospective evaluation of 78 cases with organic acidemia. Turk J Med Sc 1993; 18; 47-53
  • 5. Kalkanoğlu S, Coşkun T, Tokatlı A, Topçu M, Özalp İ. The profiles of organic acidemia patients in Turkey: a 23 year experience. BMJG 1998; 1; 175-177.0o-2-deoxyglucose (18FDG) PET scan of the brain in propionic acidemia: clinical and MRI correlations. Brain Dev 1999; 21; 312-317
  • 9. Brismar J, Ozand PT. CT and MR of the brain in the diagnosis of organic acidemias. Experiences from 107 patients. Brain DAEV 1994; 16; 104-124
  • 10. Lehnert W, Sperl W, Suormala T, Baumgartner R Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients. Eur J Pediatr 1994; 153; 68-80
  • 11. Sweetman L, Williams JC. Branched chain organic acidurias. In: Scriver CR Beaudet AL, Sly WS, Vale D,eds. The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001; 2125-2163
  • 12. Ogier de Baulny H, Saudubray JM. Branched-chain organic acidurias. In: Fernandes J, Saudubray JM, van den Berghe G, eds. Inborn Metabolic Diseases. 3rd ed. Berlin, Heidelberg, New York: Springer;2000; 196-212
  • 13. North KN, Korson MS, Gopal YR, Rohr FJ, Brazelton TB, Waisbren SE, et al. Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implicationsfor management. J Pediatr 1995; 126; 916-922
  • 14. Sass JO, Hofmann M, Skladal D, Mayatepek E, Schwahn B, Sperl W. Propionic acidemia revisited: a workshop report. Clin Pediatr 2004; 43; 837-843
  • 15. Fenton WA, Rosenberg LE. Disorders of propionate and methylmalonate metabolism. In: Scriver CR Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease (7th ed). New York: McGraw-Hill; 1995; 1423-451
  • 16. Matsuoka OT, Yamaguchi A, Castellanof AL, Sadeck LS, Ramos JL, Leone CR Propionic acidemia in the neonatal period. Rev Hosp Clin Fac Sao Paulo 1998; 53; 195-198
  • 17. Gebhardt B, Dittrich S, Parbel S, Vlaho S, Matsika O, Bohles H. N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia. J Inherit Metab Dis 2005; 28; 241-244 18. Bachmann C. Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation. Eur J Pediatr 2003; 162; 410-416
  • 19. Filippi L, Gozzini E, Fiorini P, Malvagia S, la Marca G, Donati MA. N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. Neonatology 2010; 97; 286-290
  • 20. Clarke JTR. Acute metabolic illness in the newborn. In: Clarke JTR (ed). A Clinical guide to inherited metabolic disease (3th ed). Cambridge: Cambridge University Pres, 2006; 198-214
  • 21. Akman İ, İmamoglu S, Demirkol M, Alpay H, Özek E. Neonatal onset propionic acidemia without acidosis: a case report. The Turkish Journal of Pediatrics 2002; 44; 339-342
  • 22. Leonard JV, Walter JH, McKiernan PJ. The management of organic acidaemias. the role of transplantation. J Inherit Metab Dis 2001; 24; 309-311
  • 23. Gebhardt B, Vlaho S, Fischer D, Sewell A, Bohles H. N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria. Mol Genet Metab 2003; 79; 303-304
  • 24. Gebhardt B,Dittrich S,Parbel S, Vlaho S,Matsika O,Bohles H. N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia. J Inherit Metab Dis 2005; 28; 241-244
  • 25. Schwahn BC, Pieterse L, Bisset WM, Galloway PG, Robinson PH. Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia.. Eur J Pediatr 2010; 169; 133-134
  • 26. Miyazaki T, Ohura T, Kobayashi M, Shigematsu Y, Yamaguchi S, Hata I, et al. Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene. J Biol Chem 2001; 276; 35995-35999

A newborn was diagnosed as propionic acidemia

Yıl 2010, Cilt 41, Sayı 3, 161 - 165, 01.04.2010

Öz

3000 gr term female infant while healthy at birth, after 24 hours the loss of tonus began to appear had referred to us breastfeeding difficulties, vomiting at third day. On her physical examination she was hypotonic, decreased turgor, dry mouth, decreased response to painful stimuli and tachypneic. Neonatal reflexes were decreased. In family history, there was second degree consanguinity between her parents. In her father's second degree relatives sudden infant death history was seen. During follow-up, she developed hypoglisemia, persistent myoclonic convulsions, metabolic acidosis, renalfailure. On tandem mass spectrometric analysis (Tandem MS), C3-propionyl carnitin level was increased. Urine organic acid analysis revealed increased 3-OH propionic acid, fumaric acid, andpropionylglycine levels. She was diagnosed as propionic acidemia and a protein restricted diet and biotin supplementations were started. In our country, where the prevalence of consanguineous marriages is very high, inborn errors of metabolism should be strongly considered in all of those full term neonates and children who develop hypotonia, failure to thrive and convulsion after an uneventful labor, as well as in those developing signs and symptoms of neonatal sepsis without any risk factors baby.

Kaynakça

  • 1. Wolf B, Hsia YE, Sweetman L, Gravel R, Haris DJ, Nyhan WL. Propionic acidemia: a clinical update. J Pediatr 1981; 99; 835-846
  • 2. Özalp İ, Coşkun T, Tokol S, Demircin G, Mönch E. Inherited metabolic disorders in Turkey. J Inherit Metab Dis 1990; 13; 732-738
  • 3. Fenton WA, Gravel WA, Rosenblatt DS. Disorders of propionate and methylmalonate in metabolism. In: Scriver CR Beudet AL, Sly WS, Vale D, eds. New York: McGraw-Hill, 2001; 2165-2193
  • 4. Tokatlı A, Coşkun T, Özalp İ. A retrospective evaluation of 78 cases with organic acidemia. Turk J Med Sc 1993; 18; 47-53
  • 5. Kalkanoğlu S, Coşkun T, Tokatlı A, Topçu M, Özalp İ. The profiles of organic acidemia patients in Turkey: a 23 year experience. BMJG 1998; 1; 175-177.0o-2-deoxyglucose (18FDG) PET scan of the brain in propionic acidemia: clinical and MRI correlations. Brain Dev 1999; 21; 312-317
  • 9. Brismar J, Ozand PT. CT and MR of the brain in the diagnosis of organic acidemias. Experiences from 107 patients. Brain DAEV 1994; 16; 104-124
  • 10. Lehnert W, Sperl W, Suormala T, Baumgartner R Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients. Eur J Pediatr 1994; 153; 68-80
  • 11. Sweetman L, Williams JC. Branched chain organic acidurias. In: Scriver CR Beaudet AL, Sly WS, Vale D,eds. The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001; 2125-2163
  • 12. Ogier de Baulny H, Saudubray JM. Branched-chain organic acidurias. In: Fernandes J, Saudubray JM, van den Berghe G, eds. Inborn Metabolic Diseases. 3rd ed. Berlin, Heidelberg, New York: Springer;2000; 196-212
  • 13. North KN, Korson MS, Gopal YR, Rohr FJ, Brazelton TB, Waisbren SE, et al. Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implicationsfor management. J Pediatr 1995; 126; 916-922
  • 14. Sass JO, Hofmann M, Skladal D, Mayatepek E, Schwahn B, Sperl W. Propionic acidemia revisited: a workshop report. Clin Pediatr 2004; 43; 837-843
  • 15. Fenton WA, Rosenberg LE. Disorders of propionate and methylmalonate metabolism. In: Scriver CR Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease (7th ed). New York: McGraw-Hill; 1995; 1423-451
  • 16. Matsuoka OT, Yamaguchi A, Castellanof AL, Sadeck LS, Ramos JL, Leone CR Propionic acidemia in the neonatal period. Rev Hosp Clin Fac Sao Paulo 1998; 53; 195-198
  • 17. Gebhardt B, Dittrich S, Parbel S, Vlaho S, Matsika O, Bohles H. N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia. J Inherit Metab Dis 2005; 28; 241-244 18. Bachmann C. Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation. Eur J Pediatr 2003; 162; 410-416
  • 19. Filippi L, Gozzini E, Fiorini P, Malvagia S, la Marca G, Donati MA. N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. Neonatology 2010; 97; 286-290
  • 20. Clarke JTR. Acute metabolic illness in the newborn. In: Clarke JTR (ed). A Clinical guide to inherited metabolic disease (3th ed). Cambridge: Cambridge University Pres, 2006; 198-214
  • 21. Akman İ, İmamoglu S, Demirkol M, Alpay H, Özek E. Neonatal onset propionic acidemia without acidosis: a case report. The Turkish Journal of Pediatrics 2002; 44; 339-342
  • 22. Leonard JV, Walter JH, McKiernan PJ. The management of organic acidaemias. the role of transplantation. J Inherit Metab Dis 2001; 24; 309-311
  • 23. Gebhardt B, Vlaho S, Fischer D, Sewell A, Bohles H. N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria. Mol Genet Metab 2003; 79; 303-304
  • 24. Gebhardt B,Dittrich S,Parbel S, Vlaho S,Matsika O,Bohles H. N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia. J Inherit Metab Dis 2005; 28; 241-244
  • 25. Schwahn BC, Pieterse L, Bisset WM, Galloway PG, Robinson PH. Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia.. Eur J Pediatr 2010; 169; 133-134
  • 26. Miyazaki T, Ohura T, Kobayashi M, Shigematsu Y, Yamaguchi S, Hata I, et al. Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene. J Biol Chem 2001; 276; 35995-35999

Propiyonik asidemi tanısı konulan bir yenidoğan

Yıl 2010, Cilt 41, Sayı 3, 161 - 165, 01.04.2010

Öz

Doğumda sağlıklı iken 24 saatten sonra tonus kaybı belirmeye başlayan ,üçüncü gün emmede azalma ve kusma şikayeti ile kliniğimize başvuran 3000 gr zamanında doğan kız bebek fizik muayenesinde letarjik, hipotonik, turgoru azalmış, ağız mukozası kuru, ağrılı uyarana yanıtı azalmış ve takipneik olarak gözlendi. Yenidoğan refleksleri azalmıştı. Aile hikayesinde anne-baba arasında ikinci derece akraba evliliği ve babanın ikinci derece akrabalarında ani bebek ölümü hikayesi olan hastanın takibinde hipoglisemi, dirençli miyoklonik nöbetler, metabolik asidoz ve böbrek yetmezliği gelişti. Tandem mass spektrometrik (Tandem MS) analizi sonucu yüksek plazma C3-Propiyonil karnitin düzeyi saptandı. Ayrıca idrar organik asit incelemesinde 3-OHpropiyonik asit, fumarik asit vepropiyonil glisin seviyelerinde artış gözlendi. Bu bulgular ışığında hastaya propiyonik asidemi tanısı kondu. Proteinden fakir diet, biotin tedavisi başlandı. Akraba evliliğinin yaygın olduğu ülkemizde sağlıklı doğmuş ancak hipotonisi, emme güçlüğü ve konvülsiyonu olan yenidoğan veya herhangi bir risk faktörü yokken neonatal sepsis tablosu gelişen bebeklerde doğumsal metabolizma hastalıkları daima akılda tutulmalıdır.

Kaynakça

  • 1. Wolf B, Hsia YE, Sweetman L, Gravel R, Haris DJ, Nyhan WL. Propionic acidemia: a clinical update. J Pediatr 1981; 99; 835-846
  • 2. Özalp İ, Coşkun T, Tokol S, Demircin G, Mönch E. Inherited metabolic disorders in Turkey. J Inherit Metab Dis 1990; 13; 732-738
  • 3. Fenton WA, Gravel WA, Rosenblatt DS. Disorders of propionate and methylmalonate in metabolism. In: Scriver CR Beudet AL, Sly WS, Vale D, eds. New York: McGraw-Hill, 2001; 2165-2193
  • 4. Tokatlı A, Coşkun T, Özalp İ. A retrospective evaluation of 78 cases with organic acidemia. Turk J Med Sc 1993; 18; 47-53
  • 5. Kalkanoğlu S, Coşkun T, Tokatlı A, Topçu M, Özalp İ. The profiles of organic acidemia patients in Turkey: a 23 year experience. BMJG 1998; 1; 175-177.0o-2-deoxyglucose (18FDG) PET scan of the brain in propionic acidemia: clinical and MRI correlations. Brain Dev 1999; 21; 312-317
  • 9. Brismar J, Ozand PT. CT and MR of the brain in the diagnosis of organic acidemias. Experiences from 107 patients. Brain DAEV 1994; 16; 104-124
  • 10. Lehnert W, Sperl W, Suormala T, Baumgartner R Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients. Eur J Pediatr 1994; 153; 68-80
  • 11. Sweetman L, Williams JC. Branched chain organic acidurias. In: Scriver CR Beaudet AL, Sly WS, Vale D,eds. The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001; 2125-2163
  • 12. Ogier de Baulny H, Saudubray JM. Branched-chain organic acidurias. In: Fernandes J, Saudubray JM, van den Berghe G, eds. Inborn Metabolic Diseases. 3rd ed. Berlin, Heidelberg, New York: Springer;2000; 196-212
  • 13. North KN, Korson MS, Gopal YR, Rohr FJ, Brazelton TB, Waisbren SE, et al. Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implicationsfor management. J Pediatr 1995; 126; 916-922
  • 14. Sass JO, Hofmann M, Skladal D, Mayatepek E, Schwahn B, Sperl W. Propionic acidemia revisited: a workshop report. Clin Pediatr 2004; 43; 837-843
  • 15. Fenton WA, Rosenberg LE. Disorders of propionate and methylmalonate metabolism. In: Scriver CR Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease (7th ed). New York: McGraw-Hill; 1995; 1423-451
  • 16. Matsuoka OT, Yamaguchi A, Castellanof AL, Sadeck LS, Ramos JL, Leone CR Propionic acidemia in the neonatal period. Rev Hosp Clin Fac Sao Paulo 1998; 53; 195-198
  • 17. Gebhardt B, Dittrich S, Parbel S, Vlaho S, Matsika O, Bohles H. N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia. J Inherit Metab Dis 2005; 28; 241-244 18. Bachmann C. Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation. Eur J Pediatr 2003; 162; 410-416
  • 19. Filippi L, Gozzini E, Fiorini P, Malvagia S, la Marca G, Donati MA. N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. Neonatology 2010; 97; 286-290
  • 20. Clarke JTR. Acute metabolic illness in the newborn. In: Clarke JTR (ed). A Clinical guide to inherited metabolic disease (3th ed). Cambridge: Cambridge University Pres, 2006; 198-214
  • 21. Akman İ, İmamoglu S, Demirkol M, Alpay H, Özek E. Neonatal onset propionic acidemia without acidosis: a case report. The Turkish Journal of Pediatrics 2002; 44; 339-342
  • 22. Leonard JV, Walter JH, McKiernan PJ. The management of organic acidaemias. the role of transplantation. J Inherit Metab Dis 2001; 24; 309-311
  • 23. Gebhardt B, Vlaho S, Fischer D, Sewell A, Bohles H. N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria. Mol Genet Metab 2003; 79; 303-304
  • 24. Gebhardt B,Dittrich S,Parbel S, Vlaho S,Matsika O,Bohles H. N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia. J Inherit Metab Dis 2005; 28; 241-244
  • 25. Schwahn BC, Pieterse L, Bisset WM, Galloway PG, Robinson PH. Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia.. Eur J Pediatr 2010; 169; 133-134
  • 26. Miyazaki T, Ohura T, Kobayashi M, Shigematsu Y, Yamaguchi S, Hata I, et al. Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene. J Biol Chem 2001; 276; 35995-35999

Ayrıntılar

Birincil Dil Türkçe
Bölüm Makaleler
Yazarlar

A. Barış AKCAN Bu kişi benim


Suat ÖZDEK Bu kişi benim


Mustafa KUL Bu kişi benim


Ferhan KARADEMİR Bu kişi benim


Gökhan AYDEMİR Bu kişi benim


Selami SÜLEYMANOĞLU Bu kişi benim

Yayımlanma Tarihi 1 Nisan 2010
Yayınlandığı Sayı Yıl 2010, Cilt 41, Sayı 3

Kaynak Göster

Bibtex @ { zktipb237015, journal = {Zeynep Kamil Tıp Bülteni}, issn = {1300-7971}, eissn = {2148-4864}, address = {}, publisher = {Zeynep Kamil Kadın ve Çocuk Hastalıkları EAH}, year = {2010}, volume = {41}, pages = {161 - 165}, doi = {10.16948/zktb.18107}, title = {Propiyonik asidemi tanısı konulan bir yenidoğan}, key = {cite}, author = {Akcan, A. Barış and Özdek, Suat and Kul, Mustafa and Karademir, Ferhan and Aydemir, Gökhan and Süleymanoğlu, Selami} }
APA Akcan, A. B. , Özdek, S. , Kul, M. , Karademir, F. , Aydemir, G. & Süleymanoğlu, S. (2010). Propiyonik asidemi tanısı konulan bir yenidoğan . Zeynep Kamil Tıp Bülteni , 41 (3) , 161-165 . Retrieved from https://dergipark.org.tr/tr/pub/zktipb/issue/22076/237015
MLA Akcan, A. B. , Özdek, S. , Kul, M. , Karademir, F. , Aydemir, G. , Süleymanoğlu, S. "Propiyonik asidemi tanısı konulan bir yenidoğan" . Zeynep Kamil Tıp Bülteni 41 (2010 ): 161-165 <https://dergipark.org.tr/tr/pub/zktipb/issue/22076/237015>
Chicago Akcan, A. B. , Özdek, S. , Kul, M. , Karademir, F. , Aydemir, G. , Süleymanoğlu, S. "Propiyonik asidemi tanısı konulan bir yenidoğan". Zeynep Kamil Tıp Bülteni 41 (2010 ): 161-165
RIS TY - JOUR T1 - Propiyonik asidemi tanısı konulan bir yenidoğan AU - A. Barış Akcan , Suat Özdek , Mustafa Kul , Ferhan Karademir , Gökhan Aydemir , Selami Süleymanoğlu Y1 - 2010 PY - 2010 N1 - DO - T2 - Zeynep Kamil Tıp Bülteni JF - Journal JO - JOR SP - 161 EP - 165 VL - 41 IS - 3 SN - 1300-7971-2148-4864 M3 - UR - Y2 - 2021 ER -
EndNote %0 Zeynep Kamil Tıp Bülteni Propiyonik asidemi tanısı konulan bir yenidoğan %A A. Barış Akcan , Suat Özdek , Mustafa Kul , Ferhan Karademir , Gökhan Aydemir , Selami Süleymanoğlu %T Propiyonik asidemi tanısı konulan bir yenidoğan %D 2010 %J Zeynep Kamil Tıp Bülteni %P 1300-7971-2148-4864 %V 41 %N 3 %R %U
ISNAD Akcan, A. Barış , Özdek, Suat , Kul, Mustafa , Karademir, Ferhan , Aydemir, Gökhan , Süleymanoğlu, Selami . "Propiyonik asidemi tanısı konulan bir yenidoğan". Zeynep Kamil Tıp Bülteni 41 / 3 (Nisan 2010): 161-165 .
AMA Akcan A. B. , Özdek S. , Kul M. , Karademir F. , Aydemir G. , Süleymanoğlu S. Propiyonik asidemi tanısı konulan bir yenidoğan. Zeynep Kamil Tıp Bülteni. 2010; 41(3): 161-165.
Vancouver Akcan A. B. , Özdek S. , Kul M. , Karademir F. , Aydemir G. , Süleymanoğlu S. Propiyonik asidemi tanısı konulan bir yenidoğan. Zeynep Kamil Tıp Bülteni. 2010; 41(3): 161-165.
IEEE A. B. Akcan , S. Özdek , M. Kul , F. Karademir , G. Aydemir ve S. Süleymanoğlu , "Propiyonik asidemi tanısı konulan bir yenidoğan", Zeynep Kamil Tıp Bülteni, c. 41, sayı. 3, ss. 161-165, Nis. 2010, doi:10.16948/zktb.18107