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