Methylcobalamin deficiency cbl G type
Overview
Methylcobalamin deficiency cbl G type: An inherited organic acid disorder where an enzyme deficiency (cbl G) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of homocystine which results in harmful affects.
Symptoms
Mild macrocytic anemia Poor coordination Increased urine homocystine level Reduced blood methionine level Kidney dysfunction