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ENHomocystinuria-Megaloblastic Anemia, Cble Complementation Type (HMAE)
Alias:
Methylcobalamin Deficiency Type Cble
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, Cble Complementation Type
Homocystinuria-Megaloblastic Anemia, Cbl E Type
Hmae
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism Cble Complementation Type
Anemia, Homocystinuria-Megaloblastic, Cble Complementation Type
Functional Methionine Synthase Deficiency Type Cble
Vitamin B12-Responsive Homocystinuria, Cble Type
Vitamin B12-Responsive Homocystinuria Cble Type
Methylcobalamin Deficiency, Cble Type
Methylcobalamin Deficiency Cble Type
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Homocystinuria-Megaloblastic Anemia, Cble Complementation Type, also known as methylcobalamin deficiency type cble, is related to homocystinuria-megaloblastic anemia cble type, and has symptoms including seizures An important gene associated with Homocystinuria-Megaloblastic Anemia, Cble Complementation Type is MTRR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase). Affiliated tissues include bone marrow and liver, and related phenotypes are global developmental delay and megaloblastic bone marrow
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