" /> Homocystinuria without methylmalonic aciduria - CISMeF





Preferred Label : Homocystinuria without methylmalonic aciduria;

ICD-11 definition : Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia.;

ICD-11 synonym : Methionine synthase deficiency; Methylcobalamin deficiency; N5-methylhomocysteine transferase deficiency; 5-methyltetrahydrofolate-homocysteine s-methyltransferase;

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Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia.

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03/05/2025


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