3A01.0
Hereditary vitamin B12 deficiency anaemia
Anemia por deficiência hereditária de vitamina B12
CategoryDefinition
This is a hereditary low blood level of vitamin B12. It can cause permanent damage to nervous tissue if left untreated long enough. Vitamin B12 itself was discovered through investigation of pernicious anaemia, which is an autoimmune disease that destroys parietal cells in the stomach that secrete intrinsic factor.
Index Terms
Hereditary vitamin B12 deficiency anaemiadefects of cobalamin metabolismmegaloblastic anaemia due to hereditary vitamin B12 deficiencycongenital intrinsic factor deficiencyHereditary megaloblastic anaemia due to transcobalamin deficiencytranscobalamin deficiencytranscobalamin II deficiencyCongenital megaloblastic anaemia due to transcobalamin II deficiencyTCN2 - [transcobalamin II deficiency]transcobalamin II deficiency anaemiaAnaemia due to selective hereditary vitamin B12 malabsorption with proteinuria