Methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla complementation type (medical condition)

An inherited organic acid disorder where an enzyme deficiency (Cobalamin A deficiency) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of glycine and methylmalonic acid which results in harmful affects. See also Methylmalonic acidemia, cobalamin A deficiency

Chemwatch
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