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Methylmalonic acidemia is an inborn error of metabolsim, transmitted as an autosomal recessive traits.
Symptoms begin early in life and they are pernicious vomiting, lethargy, hepatomegaly, and failure
to thrive. Laboratory finidngs are ketosis, intermittent hyperglycinemia, and methymalonic aciduria
without vitamin B12 deficiency.
Six distinct subtypes of this disorders have been characterized.
Some of them respond well to exogenous vitamin B12 therapy.
We have experienced a... |
