An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).
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hyperhomocysteinemia
MONDO:0004743
classic homocystinuria
MONDO:0009352
homocystinuria due to methylene tetrahydrofolate reductase deficiency
MONDO:0009353
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
MONDO:0009612
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
MONDO:0009615
methylmalonic aciduria and homocystinuria type cblF
MONDO:0010183