EC 2.1.1.13 MTR 2 reactions
B12-dependent; deficiency causes megaloblastic anaemia and the methyl-folate trap
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B12-dependent; deficiency causes megaloblastic anaemia and the methyl-folate trap
Tarui disease (GSD VII): exercise intolerance, haemolysis
PK deficiency: chronic non-spherocytic haemolytic anaemia
TPP-dependent; erythrocyte transketolase activity assesses thiamine status
Target of allopurinol and febuxostat; deficiency causes xanthinuria
Vitamin D-dependent rickets type 1; stimulated by PTH, suppressed by FGF-23