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What is Maple syrup urine disease, type III?

What is Maple syrup urine disease, type III?

  • Maple syrup urine disease, type III: A very rare inherited metabolic disorder involving abnormal metabolism of branched chain amino acids (leucine, isoleucine and valine) and resulting in severe illness which generally leads to death if not treated. Even mild form can result in mental and physical retardation if untreated. Various types of maple syrup urine disease involve different genetic defects - type 3 specifically involves a defect in the E3 subunit gene.

Maple syrup urine disease, type III: Introduction

Types of Maple syrup urine disease, type III:

Broader types of Maple syrup urine disease, type III:

How serious is Maple syrup urine disease, type III?

Prognosis of Maple syrup urine disease, type III: death within days or within a year if untreated
Complications of Maple syrup urine disease, type III: see complications of Maple syrup urine disease, type III

What causes Maple syrup urine disease, type III?

Causes of Maple syrup urine disease, type III: see causes of Maple syrup urine disease, type III

What are the symptoms of Maple syrup urine disease, type III?

Symptoms of Maple syrup urine disease, type III: see symptoms of Maple syrup urine disease, type III

Complications of Maple syrup urine disease, type III: see complications of Maple syrup urine disease, type III

Onset of Maple syrup urine disease, type III: first week of life

Maple syrup urine disease, type III: Testing

Diagnostic testing: see tests for Maple syrup urine disease, type III.

Misdiagnosis: see misdiagnosis and Maple syrup urine disease, type III.

How is it treated?

Doctors and Medical Specialists for Maple syrup urine disease, type III: Medical Geneticist ; see also doctors and medical specialists for Maple syrup urine disease, type III.
Treatments for Maple syrup urine disease, type III: see treatments for Maple syrup urine disease, type III

Name and Aliases of Maple syrup urine disease, type III

Main name of condition: Maple syrup urine disease, type III

Other names or spellings for Maple syrup urine disease, type III:

MSUD, type 3, branched-chain alpha-keto acid dehydrogenase deficiency, type 3, Branched-Chain ketoaciduria, type 3

 

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