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Maple syrup urine disease, type 1A

Maple syrup urine disease, type 1A: Introduction

Maple syrup urine disease, type 1A: 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 1A specifically involves a defect in the E1-alpha subunit gene. More detailed information about the symptoms, causes, and treatments of Maple syrup urine disease, type 1A is available below.

Symptoms of Maple syrup urine disease, type 1A

Home Diagnostic Testing

Home medical testing related to Maple syrup urine disease, type 1A:

Wrongly Diagnosed with Maple syrup urine disease, type 1A?

Maple syrup urine disease, type 1A: Complications

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Causes of Maple syrup urine disease, type 1A

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Disease Topics Related To Maple syrup urine disease, type 1A

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Maple syrup urine disease, type 1A: Undiagnosed Conditions

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Misdiagnosis and Maple syrup urine disease, type 1A

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Maple syrup urine disease, type 1A: Research Doctors & Specialists

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Hospitals & Clinics: Maple syrup urine disease, type 1A

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Prognosis for Maple syrup urine disease, type 1A

Prognosis for Maple syrup urine disease, type 1A: death within days or within a year if untreated

Maple syrup urine disease, type 1A: Broader Related Topics

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More information about Maple syrup urine disease, type 1A

  1. Maple syrup urine disease, type 1A: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Home Testing
  7. Complications
  8. Prognosis
 

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