Thiamine responsive megaloblastic anemia syndrome

Thiamine responsive megaloblastic anemia syndrome (also known as Rogers syndrome) is a very rare autosomal recessive genetic disorder affecting a thiamine transporter, which is characterized by megaloblastic anemia, diabetes mellitus, and hearing loss. The condition is treated with high doses of thiamine (vitamin B1).

Thiamine responsive megaloblastic anemia syndrome
Specialty	Medical genetics
Complications	Diabetes mellitus, anemia, hearing loss
Causes	SLC19A2 gene mutation[1]
Treatment	Thiamine

Signs and symptoms

In most cases (80-99%), people with this condition experience poor appetite (anorexia), diarrhea, headache, and lethargy.^[1] Thiamine responsive megaloblastic anemia syndrome is associated with progressive sensorineural hearing loss. Additional manifestations include optic atrophy, short stature, enlarged liver, and an enlarged spleen.^[2] Some cases may affect the heart, leading to abnormal heart rhythms.^[3]

Genetics

The condition is inherited in an autosomal recessive fashion, and is caused by a mutation in the SLC19A2 gene.^[1]

Diagnosis

Treatment

Treatment consists of high doses of oral thiamine. Treatment can delay the onset of diabetes mellitus, and reverses anemia. If treatment is initiated early, thiamine deficiency can be prevented.^{[citation needed]}

History

The condition was first described in 1969 by Dr. Lon E. Rogers, a pediatric hematologist in Dallas, Texas.^{[citation needed]}