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What is Thiamine responsive megaloblastic anemia syndrome?

What is Thiamine responsive megaloblastic anemia syndrome?

  • Thiamine responsive megaloblastic anemia syndrome: A rare genetic disorder characterized by megaloblastic anemia, hearing loss and diabetes. The condition is caused by a deficiency of a thiamine (vitamin B1) transporter protein which means that the body is unable to effectively utilize thiamine from the diet.

Thiamine responsive megaloblastic anemia syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Thiamine responsive megaloblastic anemia syndrome, or a subtype of Thiamine responsive megaloblastic anemia syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Thiamine responsive megaloblastic anemia syndrome as a "rare disease".
Source - Orphanet

Thiamine responsive megaloblastic anemia syndrome: Introduction

Types of Thiamine responsive megaloblastic anemia syndrome:

Broader types of Thiamine responsive megaloblastic anemia syndrome:

How serious is Thiamine responsive megaloblastic anemia syndrome?

Prognosis of Thiamine responsive megaloblastic anemia syndrome: fair with thiamine treatment
Complications of Thiamine responsive megaloblastic anemia syndrome: see complications of Thiamine responsive megaloblastic anemia syndrome

What causes Thiamine responsive megaloblastic anemia syndrome?

Causes of Thiamine responsive megaloblastic anemia syndrome: see causes of Thiamine responsive megaloblastic anemia syndrome

What are the symptoms of Thiamine responsive megaloblastic anemia syndrome?

Symptoms of Thiamine responsive megaloblastic anemia syndrome: see symptoms of Thiamine responsive megaloblastic anemia syndrome

Complications of Thiamine responsive megaloblastic anemia syndrome: see complications of Thiamine responsive megaloblastic anemia syndrome

Thiamine responsive megaloblastic anemia syndrome: Testing

Diagnostic testing: see tests for Thiamine responsive megaloblastic anemia syndrome.

Misdiagnosis: see misdiagnosis and Thiamine responsive megaloblastic anemia syndrome.

How is it treated?

Doctors and Medical Specialists for Thiamine responsive megaloblastic anemia syndrome: Hematologist ; see also doctors and medical specialists for Thiamine responsive megaloblastic anemia syndrome.
Treatments for Thiamine responsive megaloblastic anemia syndrome: see treatments for Thiamine responsive megaloblastic anemia syndrome

Name and Aliases of Thiamine responsive megaloblastic anemia syndrome

Main name of condition: Thiamine responsive megaloblastic anemia syndrome

Other names or spellings for Thiamine responsive megaloblastic anemia syndrome:

Rogers (L.E.) syndrome, Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase act, TRMA, Abboud syndrome, Rogers syndrome, Thiamine responsive myelodysplasia

Roger's syndrome Source - Diseases Database

Abboud syndrome, Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase act, Rogers syndrome, TRMA, Thiamine responsive myelodysplasia
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Thiamine responsive megaloblastic anemia syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Thiamine responsive megaloblastic anemia syndrome:

 

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