Thiamin-responsive Megaloblastic Anaemia: A Disorder of Thiamin Transport?
Thiamin-responsive Megaloblastic Anaemia: A Disorder of Thiamin Transport?
Thiamin-responsive megaloblastic anaemia (TRMA), associated with diabetes mellitus and sensorineural deafness (McKusick 24927) is a very rare disease, so far described in only five patients from four families. (Rogers et al., 1969; Viana and Carvalho, 1978; La Grutta et al., 1980; Haworth et al., 1982). We report the results of some studies carried out in an additional case, suggesting a possible disorder of thiamin transport in TRMA.
Adult, Male, anaemia, Erythrocytes, Anemia, Megaloblastic, Thiamin Pyrophosphokinase, thiamin transport, Adult, Anemia; Macrocytic; metabolism, Anemia; Megaloblastic; metabolism, Child; Preschool, Erythrocytes; metabolism, Female, Humans, Male, Thiamin Pyrophosphokinase; blood, Thiamine; metabolism, Child, Preschool, Humans, Female, Anemia, Macrocytic, Thiamine, anaemia; thiamin transport
Adult, Male, anaemia, Erythrocytes, Anemia, Megaloblastic, Thiamin Pyrophosphokinase, thiamin transport, Adult, Anemia; Macrocytic; metabolism, Anemia; Megaloblastic; metabolism, Child; Preschool, Erythrocytes; metabolism, Female, Humans, Male, Thiamin Pyrophosphokinase; blood, Thiamine; metabolism, Child, Preschool, Humans, Female, Anemia, Macrocytic, Thiamine, anaemia; thiamin transport
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