Journal of Child

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DOI :10.5222/j.child.2011.133   IUP :10.5222/j.child.2011.133    Full Text (PDF)

Coincidence of methylmalonic Aciduria and Prepyloric Web: Case Report

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

Methylmalonic aciduria (MMA) is an inherited autosomal recessive disease characterized by interruption of conversion of methylmalonil-CoA to succinyl-CoA and subsequent hydrolization to methylmalonic acid leading to increased methylmalonic acid levels in blood, cerebrospinal fluid and urine. Three days old female newborn admitted to Emergency Department with complaints of severe vomiting, lethargy and respiratory distress. In physical examination 12.3 % weight loss was remarkable. Laboratory tests revealed pancytopenia, metabolic acidosis and hyperammonemia. Increased blood amonium levels, urine organic acid and acyl carnitine profile suggested methylmalonic 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 metabolism, in cases with severe vomiting in differential diagnosis, mechanical obstruction should be kept in mind.

Keywords: Methylmalonic aciduria, prepyloric web, newborn
DOI :10.5222/j.child.2011.133   IUP :10.5222/j.child.2011.133    Full Text (PDF)

Metilmalonik Asidüri ve Prepilorik Perde Birlikteliği: Vaka Sunumu

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

Metilmalonik asidüri (MMA) otozomal resesif kalıtımlı, Metilmalonil-CoA’nın, suksinil-CoA’ya dönüşemeyip metilmalonik 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 yakınmaları ile acil polikliniğe getirildi. Fizik muayenesinde, % 12,3 tartı kaybı, ağır metabolik asidoz, pansitopeni ve hiperamoyemi 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 kusmalarda mekanik nedenler de düşünülmelidir.

Keywords: Metilmalonik asidemi, prepilorik perde, yenidoğan

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APA

Çelik, M., Can, E., Bolat, F., Uslu, H.S., Sever, N., & Önal, H. (2011). Coincidence of methylmalonic Aciduria and Prepyloric Web: Case Report. Journal of Child, 11(3), 133-137. https://doi.org/10.5222/j.child.2011.133


AMA

Çelik M, Can E, Bolat F, Uslu H S, Sever N, Önal H. Coincidence of methylmalonic Aciduria and Prepyloric Web: Case Report. Journal of Child. 2011;11(3):133-137. https://doi.org/10.5222/j.child.2011.133


ABNT

Çelik, M.; Can, E.; Bolat, F.; Uslu, H.S.; Sever, N.; Önal, H. Coincidence of methylmalonic Aciduria and Prepyloric Web: Case Report. Journal of Child, [Publisher Location], v. 11, n. 3, p. 133-137, 2011.


Chicago: Author-Date Style

Çelik, Muhittin, and Emrah Can and Fatih Bolat and Hasan Sinan Uslu and Nihat Sever and Hasan Önal. 2011. “Coincidence of methylmalonic Aciduria and Prepyloric Web: Case Report.” Journal of Child 11, no. 3: 133-137. https://doi.org/10.5222/j.child.2011.133


Chicago: Humanities Style

Çelik, Muhittin, and Emrah Can and Fatih Bolat and Hasan Sinan Uslu and Nihat Sever and Hasan Önal. “Coincidence of methylmalonic Aciduria and Prepyloric Web: Case Report.” Journal of Child 11, no. 3 (Aug. 2025): 133-137. https://doi.org/10.5222/j.child.2011.133


Harvard: Australian Style

Çelik, M & Can, E & Bolat, F & Uslu, HS & Sever, N & Önal, H 2011, 'Coincidence of methylmalonic Aciduria and Prepyloric Web: Case Report', Journal of Child, vol. 11, no. 3, pp. 133-137, viewed 17 Aug. 2025, https://doi.org/10.5222/j.child.2011.133


Harvard: Author-Date Style

Çelik, M. and Can, E. and Bolat, F. and Uslu, H.S. and Sever, N. and Önal, H. (2011) ‘Coincidence of methylmalonic Aciduria and Prepyloric Web: Case Report’, Journal of Child, 11(3), pp. 133-137. https://doi.org/10.5222/j.child.2011.133 (17 Aug. 2025).


MLA

Çelik, Muhittin, and Emrah Can and Fatih Bolat and Hasan Sinan Uslu and Nihat Sever and Hasan Önal. “Coincidence of methylmalonic Aciduria and Prepyloric Web: Case Report.” Journal of Child, vol. 11, no. 3, 2011, pp. 133-137. [Database Container], https://doi.org/10.5222/j.child.2011.133


Vancouver

Çelik M, Can E, Bolat F, Uslu HS, Sever N, Önal H. Coincidence of methylmalonic Aciduria and Prepyloric Web: Case Report. Journal of Child [Internet]. 17 Aug. 2025 [cited 17 Aug. 2025];11(3):133-137. Available from: https://doi.org/10.5222/j.child.2011.133 doi: 10.5222/j.child.2011.133


ISNAD

Çelik, Muhittin - Can, Emrah - Bolat, Fatih - Uslu, HasanSinan - Sever, Nihat - Önal, Hasan. “Coincidence of methylmalonic Aciduria and Prepyloric Web: Case Report”. Journal of Child 11/3 (Aug. 2025): 133-137. https://doi.org/10.5222/j.child.2011.133



TIMELINE


Published Online30.12.2011

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