Late-Onset Methylmalonic Acidemia

is one of the most common organic acidemias caused by deficiency of the enzyme Methylmalonic-CoA mutase. Clinical signs - which are close to those seen in Propionic Acidemia- appear soon after birth and include ketoacidotic coma, hyperammonemia and convulsions. In the late-onset from, children exhibit anorexia, failure to thrive, hypotonia, developmental delay, kidney dysfunction (renal tubular acidosis associated with hyperuricemia), and sometimes have protein aversion and/or vomiting and lethargy after protein intake. They demonstrate periods of relative health and intermittent metabolic decompensation, usually associated with intercurrent infections and stress. (Source: Gene Reviews)

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