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What is Maple syrup urine disease, type II?

What is Maple syrup urine disease, type II?

  • Maple syrup urine disease, type II: 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 2 specifically involves a defect in the E2 subunit gene.

Maple syrup urine disease, type II is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Maple syrup urine disease, type II, or a subtype of Maple syrup urine disease, type II, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Maple syrup urine disease, type II: Introduction

Types of Maple syrup urine disease, type II:

Broader types of Maple syrup urine disease, type II:

How serious is Maple syrup urine disease, type II?

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

What causes Maple syrup urine disease, type II?

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

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

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

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

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

Maple syrup urine disease, type II: Testing

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

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

How is it treated?

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

Name and Aliases of Maple syrup urine disease, type II

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

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

MSUD, type 2, branched-chain alpha-keto acid dehydrogenase deficiency, type 2, Branched-Chain ketoaciduria, type 2

MSUD, type II, MSUD2
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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