Thiamine responsive megaloblastic anemia syndrome
| Thiamine responsive megaloblastic anemia syndrome | |
|---|---|
| Specialty | Medical genetics |
| Complications | Diabetes mellitus, anemia, hearing loss |
| Causes | SLC19A2 gene mutation[1] |
| Treatment | Thiamine |
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).
Signs and symptoms[edit]
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[edit]
The condition is inherited in an autosomal recessive fashion, and is caused by a mutation in the SLC19A2 gene.[1]
Diagnosis[edit]
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Treatment[edit]
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[edit]
The condition was first described in 1969 by Dr. Lon E. Rogers, a pediatric hematologist in Dallas, Texas.[citation needed]
References[edit]
- ^ a b c "Thiamine responsive megaloblastic anemia syndrome". Genetic and Rare Diseases Information Center. National Center for Advancing Translational Science.
- ^ Matthews, Lulu (February 17, 2009). "Thiamine Responsive Megaloblastic Anemia" (PDF). Indian Pediatrics. 46 (11): 374–376. doi:10.1111/j.1753-4887.1980.tb05947.x. S2CID 35313931. Archived from the original (PDF) on April 9, 2018.
- ^ "Thiamine-responsive megaloblastic anemia syndrome". Genetics Home Reference. US National Library of Medicine.