Metilmalonik Asidüri ve Prepilorik Perde Birlikteliği: Vaka Sunumu

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

Coincidence of methylmalonic Aciduria and Prepyloric Web: Case Report

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

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