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What is Maple syrup urine disease, type 1B?

What is Maple syrup urine disease, type 1B?

  • Maple syrup urine disease, type 1B: 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 1B specifically involves a defect in the E1-beta subunit gene.

Maple syrup urine disease, type 1B: Introduction

Types of Maple syrup urine disease, type 1B:

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

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

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

What causes Maple syrup urine disease, type 1B?

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

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

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

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

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

Maple syrup urine disease, type 1B: Testing

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

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

How is it treated?

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

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

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

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

MSUD, type 1B, branched-chain alpha-keto acid dehydrogenase deficiency, type 1B, Branched-Chain ketoaciduria, type 1B, MSUD, type IB, MSUD, type 3 (formerly), MSUD due to deficiency of e1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex

Maple syrup urine disease, type 1B: Related Conditions

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

 

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