Methylmalonic acidemia is an inborn error of metabolism, which is characterized by excretion of large amount of methylmalonate, and is transmitted as an autosomal recessive traits. The clinical symptoms begin in early life and are recurrent vomiting, lethargy, dehydration, failure to thrive. Laboratory findings show ketosis, metabolic acidosis, methymalonic aciduria with normal serum cobalamin level, hyperammonemia, pancytopenia. Two treatment regi- mens exist and should be employed immediately:one is restriction of protein diet and the other is cobalamin injection. We experienced a 6 month old female with recurrent vomiting and dehydration with metabloic acidosis, hyperam- monemia, who was diagnosed as methylmalonic acidemia by NMR spectrometry. A brief review of literature was made.
Key Words: Organic acidemia, Metabolic acidosis, Hyperammonemia, Pancytopenia, Methylmalonic acidemia
|