Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cbIE complementation type (medical condition)

An inherited organic acid disorder where an enzyme deficiency (cbl E) impairs the body's ability to break down cobalamin in the diet. This results in a buildup of homocystine which results in harmful affects. See also Methylcobalamin deficiency, cbl E complementation type

Chemwatch
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