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Thiamine-Responsive Megaloblastic Anemia (TRMA, Rogers Syndrome) with Diabetes Mellitus and Sensorineural Deafness Associated with Mutations in SLC19A2

Description

The absence of a high-affinity thiamine transporter can result in thiamine-responsive megaloblastic anemia (TRMA) and other findings related to intracellular thiamine deficiency.


Chromosome: 1q23.23.3

 

Gene affected: high-affinity thiamine transporter (SLC19A2)

 

Inheritance: autosomal recessive

 

Features:

(1) thiamine-responsive megaloblastic anemia (TRMA)

(2) sensorineural deafness

(3) diabetes mellitus or abnormal glucose tolerance

(4) low alpha-ketoglutarate activity

 

The anemia responds to pharmacologic doses of thiamine. It is may be described as a sideroblastic anemia with secondary megaloblastic changes.


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