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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... |
