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Definition

An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke.

Acronym

TRMA

Synonyms

Megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness
Rogers syndrome
Thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type)
Thiamine-responsive anemia syndrome
Thiamine-responsive myelodysplasia
THMD1

Keywords

Deafness
Diabetes mellitus

 
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