Clinical and Experimental Pediatrics

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Original Article

Jong Hoon Park, Si Houn Hahn, Kee Hwan Yoo, Kwang Chul Lee, Chang Sung Sohn, Pyung Hwa Choe

Clin Exp Pediatr. 1989;32(7):984-989. Published online July 31, 1989

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...

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