ISSN: 1305-9327

 
 

VOLUME: 14 NUMBER: 1
 
 

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22 - Methylmalonic acidemia with pancytopenia: a case report
   
Osman Baştuğ, Mehmet Adnan Öztürk, Levent Korkmaz, Şeyma Memur, Hülya Halis, Fatih Kardaş, Ekrem Ünal, Selim Kurtoğlu
   
  ABSTRACT
   
  Methylmalonic acidemia is an autosomal recessive metabolic disorder in the group of organic acidemia. The precise incidence in our country is unknown. Clinic aspect of methylmalonic acidemia in the neonatal period include usually heavy ketosis, metabolic acidosis, hyperammonemia, pancytopenia, coma, and death. We represent a case of 56 days female infant who has pancytopenia but hasn’t organic acidemia findings with a diagnosis of methylmalonic acidemia, to emphasize the difficulties in diagnosing.
   
  Keywords
  Methylmalonic acidemia, pancytopenia, infant
   
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