BibTex RIS Kaynak Göster

Metilmalonik Asidüri ve Prepilorik Perde Birlikteliği: Vaka Sunumu

Yıl 2011, Cilt: 11 Sayı: 3, 133 - 137, 01.07.2011

Muhittin Çelik Emrah Can Fatih Bolat Sinan Uslu Nihat Sever Hasan Önal

https://doi.org/10.5222/j.child.2011.133

Öz

Metilmalonik asidüri MMA otozomal resesif kalıtımlı, Metilmalonil-CoA’nın, suksinil-CoA’ya dönüşemeyip metil- malonik aside hidrolize olması ile kanda, idrarda ve beyin omurilik sıvısında metilmalonik asidin yükselmesi ile karakterize metabolik bir hastalıktır. Üç günlük kız bebek şiddetli kusma, uykuya meyil ve solunum sıkıntısı yakınma- ları ile acil polikliniğe getirildi. Fizik muayenesinde, % 12,3 tartı kaybı, ağır metabolik asidoz, pansitopeni ve hipera- moyemi tespit edildi. Amonyak düzeyinin yüksek olması, idrar organik asit ve açil karnitin incelemesi sonucunda metilmalonik asidüri düşünüldü. Karın grafisinde mide distaline geçişin olmadığı görüldü. Laparotomi sonucunda prepilorik perde saptandı. Kusma, metabolik hastalıklarda genellikle hastalığın ilk semptomudur, ancak ısrarcı kus- malarda mekanik nedenler de düşünülmelidir

Anahtar Kelimeler

Metilmalonik asidemi prepilorik perde yenidoğan

Kaynakça

  • 1. Swaiman KF. Aminoacidopathies and organic acidemias resulting from deficiency of enzyme activity and transport abnormalities. Swaiman KF, Ashwal S. Pediatric Neurology Practice and Principles. 3th ed. St Louis Baltimore-Toronto: Mosby Company 1999: 395.
  • 2. Matsui SM, Mahoney MJ, Rosenberg LE. The natural history of the inherited methylmalonic acidemias. N Engl J Med 1983;308:857-61. http://dx.doi.org/10.1056/NEJM198304143081501 PMid:6132336
  • 3. Fenton WA, Gravel RA, Rosenblatt DS. Disorders of propionate and methylmalonate metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2001;2165-93
  • 4. Venditti CP. Methylmalonic Asidemi. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2005.
  • 5. Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C. Methylmalonic and propionic aciduria. Am J Med Genet C Semin Med Genet 2006;142C(2):104-12. http://dx.doi.org/10.1002/ajmg.c.30090 PMid:16602092
  • 6. Nicolaides P, Leonard J, Surtees R. Neurological outcome of methylmalonic acidaemia. Arch Dis Child 1998;78:508- 12. http://dx.doi.org/10.1136/adc.78.6.508 PMid:9713004 PMCid:1717592
  • 7. de Baulny HO, Benoist JF, Rigal O, Touati G, Rabier D, Saudubray JM. Methylmalonic and propionic acidemias management and outcome. J Inherit Metab Dis 2005;28(3): 415-23. http://dx.doi.org/10.1007/s10545-005-7056-1PMid:15868474
  • 8. Shevell Ml, Matiaszuk N, Ledley FD, Rosenblatt DS. Varying neurological phenotypes among mut° and mut– patients with methylmalonyl CoA mutase deficiency. Am J Med Genet 1993;45:619-24. http://dx.doi.org/10.1002/ajmg.1320450521 PMid:7681251
  • 9. Chew AL, Friedwald JP, Donovan C. Diagnosis of congenital antral web by ultrasound. Pediatr Radiol 1992;22:342-3. http://dx.doi.org/10.1007/BF02016251 PMid:1408440
  • 10. Lui KW, Wong HF, Wan YL, Hung CF Ng KK, Tseng JH. Antral web- a rare cause of vomiting in children. Pediatr Surg Int 2000;16:424-5. http://dx.doi.org/10.1007/s003839900317 PMid:10955580

Coincidence of methylmalonic Aciduria and Prepyloric Web: Case Report

Yıl 2011, Cilt: 11 Sayı: 3, 133 - 137, 01.07.2011

Muhittin Çelik Emrah Can Fatih Bolat Sinan Uslu Nihat Sever Hasan Önal

https://doi.org/10.5222/j.child.2011.133

Öz

Methylmalonic aciduria MMA is an inherited autosomal recessive disease characterized by interruption of conver- sion of methylmalonil-CoA to succinyl-CoA and subsequ- ent hydrolization to methylmalonic acid leading to increa- sed methylmalonic acid levels in blood, cerebrospinal fluid and urine. Three days old female newborn admitted to Emergency Department with complaints of severe vomi- ting, lethargy and respiratory distress. In physical exami- nation 12.3 % weight loss was remarkable. Laboratory tests revealed pancytopenia, metabolic acidosis and hype- rammonemia. Increased blood amonium levels, urine orga- nic acid and acyl carnitine profile suggested methylmalo- nic aciduria. Plain abdominal radiograms did not reveal any air passage to distal of the stomach. In laparotomy prepyloric web was found. Although vomiting may be observed as the initial symptom in inborn errors of metabo- lism, in cases with severe vomiting in differential diagnosis, mechanical obstruction should be kept in mind

Anahtar Kelimeler

Methylmalonic aciduria prepyloric web newborn

Kaynakça

  • 1. Swaiman KF. Aminoacidopathies and organic acidemias resulting from deficiency of enzyme activity and transport abnormalities. Swaiman KF, Ashwal S. Pediatric Neurology Practice and Principles. 3th ed. St Louis Baltimore-Toronto: Mosby Company 1999: 395.
  • 2. Matsui SM, Mahoney MJ, Rosenberg LE. The natural history of the inherited methylmalonic acidemias. N Engl J Med 1983;308:857-61. http://dx.doi.org/10.1056/NEJM198304143081501 PMid:6132336
  • 3. Fenton WA, Gravel RA, Rosenblatt DS. Disorders of propionate and methylmalonate metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 2001;2165-93
  • 4. Venditti CP. Methylmalonic Asidemi. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2005.
  • 5. Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C. Methylmalonic and propionic aciduria. Am J Med Genet C Semin Med Genet 2006;142C(2):104-12. http://dx.doi.org/10.1002/ajmg.c.30090 PMid:16602092
  • 6. Nicolaides P, Leonard J, Surtees R. Neurological outcome of methylmalonic acidaemia. Arch Dis Child 1998;78:508- 12. http://dx.doi.org/10.1136/adc.78.6.508 PMid:9713004 PMCid:1717592
  • 7. de Baulny HO, Benoist JF, Rigal O, Touati G, Rabier D, Saudubray JM. Methylmalonic and propionic acidemias management and outcome. J Inherit Metab Dis 2005;28(3): 415-23. http://dx.doi.org/10.1007/s10545-005-7056-1PMid:15868474
  • 8. Shevell Ml, Matiaszuk N, Ledley FD, Rosenblatt DS. Varying neurological phenotypes among mut° and mut– patients with methylmalonyl CoA mutase deficiency. Am J Med Genet 1993;45:619-24. http://dx.doi.org/10.1002/ajmg.1320450521 PMid:7681251
  • 9. Chew AL, Friedwald JP, Donovan C. Diagnosis of congenital antral web by ultrasound. Pediatr Radiol 1992;22:342-3. http://dx.doi.org/10.1007/BF02016251 PMid:1408440
  • 10. Lui KW, Wong HF, Wan YL, Hung CF Ng KK, Tseng JH. Antral web- a rare cause of vomiting in children. Pediatr Surg Int 2000;16:424-5. http://dx.doi.org/10.1007/s003839900317 PMid:10955580
Toplam 10 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Araştırma Makaleleri
Yazarlar

Muhittin Çelik Bu kişi benim

Emrah Can Bu kişi benim

Fatih Bolat Bu kişi benim

Sinan Uslu Bu kişi benim

Nihat Sever Bu kişi benim

Hasan Önal Bu kişi benim

Yayımlanma Tarihi 1 Temmuz 2011
Yayımlandığı Sayı Yıl 2011 Cilt: 11 Sayı: 3

Kaynak Göster

APA Çelik, M., Can, E., Bolat, F., Uslu, S., vd. (2011). Metilmalonik Asidüri ve Prepilorik Perde Birlikteliği: Vaka Sunumu. Çocuk Dergisi, 11(3), 133-137. https://doi.org/10.5222/j.child.2011.133
AMA Çelik M, Can E, Bolat F, Uslu S, Sever N, Önal H. Metilmalonik Asidüri ve Prepilorik Perde Birlikteliği: Vaka Sunumu. Çocuk Dergisi. Temmuz 2011;11(3):133-137. doi:10.5222/j.child.2011.133
Chicago Çelik, Muhittin, Emrah Can, Fatih Bolat, Sinan Uslu, Nihat Sever, ve Hasan Önal. “Metilmalonik Asidüri Ve Prepilorik Perde Birlikteliği: Vaka Sunumu”. Çocuk Dergisi 11, sy. 3 (Temmuz 2011): 133-37. https://doi.org/10.5222/j.child.2011.133.
EndNote Çelik M, Can E, Bolat F, Uslu S, Sever N, Önal H (01 Temmuz 2011) Metilmalonik Asidüri ve Prepilorik Perde Birlikteliği: Vaka Sunumu. Çocuk Dergisi 11 3 133–137.
IEEE M. Çelik, E. Can, F. Bolat, S. Uslu, N. Sever, ve H. Önal, “Metilmalonik Asidüri ve Prepilorik Perde Birlikteliği: Vaka Sunumu”, Çocuk Dergisi, c. 11, sy. 3, ss. 133–137, 2011, doi: 10.5222/j.child.2011.133.
ISNAD Çelik, Muhittin vd. “Metilmalonik Asidüri Ve Prepilorik Perde Birlikteliği: Vaka Sunumu”. Çocuk Dergisi 11/3 (Temmuz 2011), 133-137. https://doi.org/10.5222/j.child.2011.133.
JAMA Çelik M, Can E, Bolat F, Uslu S, Sever N, Önal H. Metilmalonik Asidüri ve Prepilorik Perde Birlikteliği: Vaka Sunumu. Çocuk Dergisi. 2011;11:133–137.
MLA Çelik, Muhittin vd. “Metilmalonik Asidüri Ve Prepilorik Perde Birlikteliği: Vaka Sunumu”. Çocuk Dergisi, c. 11, sy. 3, 2011, ss. 133-7, doi:10.5222/j.child.2011.133.
Vancouver Çelik M, Can E, Bolat F, Uslu S, Sever N, Önal H. Metilmalonik Asidüri ve Prepilorik Perde Birlikteliği: Vaka Sunumu. Çocuk Dergisi. 2011;11(3):133-7.