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What is Maple syrup urine disease, type 1A?

What is Maple syrup urine disease, type 1A?

  • 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.

Maple syrup urine disease, type 1A: Introduction

Types of Maple syrup urine disease, type 1A:

Broader types of Maple syrup urine disease, type 1A:

How serious is Maple syrup urine disease, type 1A?

Prognosis of Maple syrup urine disease, type 1A: death within days or within a year if untreated
Complications of Maple syrup urine disease, type 1A: see complications of Maple syrup urine disease, type 1A

What causes Maple syrup urine disease, type 1A?

Causes of Maple syrup urine disease, type 1A: see causes of Maple syrup urine disease, type 1A

What are the symptoms of Maple syrup urine disease, type 1A?

Symptoms of Maple syrup urine disease, type 1A: see symptoms of Maple syrup urine disease, type 1A

Complications of Maple syrup urine disease, type 1A: see complications of Maple syrup urine disease, type 1A

Onset of Maple syrup urine disease, type 1A: first week of life

Maple syrup urine disease, type 1A: Testing

Diagnostic testing: see tests for Maple syrup urine disease, type 1A.

Misdiagnosis: see misdiagnosis and Maple syrup urine disease, type 1A.

How is it treated?

Doctors and Medical Specialists for Maple syrup urine disease, type 1A: Medical Geneticist ; see also doctors and medical specialists for Maple syrup urine disease, type 1A.
Treatments for Maple syrup urine disease, type 1A: see treatments for Maple syrup urine disease, type 1A

Name and Aliases of Maple syrup urine disease, type 1A

Main name of condition: Maple syrup urine disease, type 1A

Other names or spellings for Maple syrup urine disease, type 1A:

MSUD, type 1A, branched-chain alpha-keto acid dehydrogenase deficiency, type 1A, Branched-Chain ketoaciduria, type 1A

Maple syrup urine disease, type 1A: Related Conditions

Research the causes of these diseases that are similar to, or related to, Maple syrup urine disease, type 1A:

 

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