Metilmalonik Asidüri ve Prepilorik Perde Birlikteliği: Vaka Sunumu

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

doi:10.5222/j.child.2011.133

Metilmalonik Asidüri ve Prepilorik Perde Birlikteliği: Vaka Sunumu

Year 2011, Volume: 11 Issue: 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

Abstract

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

Keywords

Metilmalonik asidemi, prepilorik perde, yenidoğan

References

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

Year 2011, Volume: 11 Issue: 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

Abstract

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

Keywords

Methylmalonic aciduria, prepyloric web, newborn

References

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

There are 10 citations in total.

Details

Primary Language	Turkish
Journal Section	Research Articles
Authors	Muhittin Çelik This is me Emrah Can This is me Fatih Bolat This is me Sinan Uslu This is me Nihat Sever This is me Hasan Önal This is me
Publication Date	July 1, 2011
Published in Issue	Year 2011 Volume: 11 Issue: 3

Cite

APA	Çelik, M., Can, E., Bolat, F., Uslu, S., et al. (2011). Metilmalonik Asidüri ve Prepilorik Perde Birlikteliği: Vaka Sunumu. Journal of Child, 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. Journal of Child. July 2011;11(3):133-137. doi:10.5222/j.child.2011.133
Chicago	Çelik, Muhittin, Emrah Can, Fatih Bolat, Sinan Uslu, Nihat Sever, and Hasan Önal. “Metilmalonik Asidüri Ve Prepilorik Perde Birlikteliği: Vaka Sunumu”. Journal of Child 11, no. 3 (July 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 (July 1, 2011) Metilmalonik Asidüri ve Prepilorik Perde Birlikteliği: Vaka Sunumu. Journal of Child 11 3 133–137.
IEEE	M. Çelik, E. Can, F. Bolat, S. Uslu, N. Sever, and H. Önal, “Metilmalonik Asidüri ve Prepilorik Perde Birlikteliği: Vaka Sunumu”, Journal of Child, vol. 11, no. 3, pp. 133–137, 2011, doi: 10.5222/j.child.2011.133.
ISNAD	Çelik, Muhittin et al. “Metilmalonik Asidüri Ve Prepilorik Perde Birlikteliği: Vaka Sunumu”. Journal of Child 11/3 (July 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. Journal of Child. 2011;11:133–137.
MLA	Çelik, Muhittin et al. “Metilmalonik Asidüri Ve Prepilorik Perde Birlikteliği: Vaka Sunumu”. Journal of Child, vol. 11, no. 3, 2011, pp. 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. Journal of Child. 2011;11(3):133-7.