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What is Maple syrup urine disease?

What is Maple syrup urine disease?

  • Maple syrup urine disease: 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. Other milder variants of the disease do exist and tend to occur as late as childhood. Even mild form can result in mental and physical retardation if untreated.
  • Maple syrup urine disease: An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)
    Source - Diseases Database
  • Maple syrup urine disease: an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood.
    Source - WordNet 2.1

Maple syrup urine disease 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, or a subtype of Maple syrup urine disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Maple syrup urine disease as a "rare disease".
Source - Orphanet

Maple syrup urine disease: Introduction

Types of Maple syrup urine disease:

Broader types of Maple syrup urine disease:

How many people get Maple syrup urine disease?

Prevalance of Maple syrup urine disease: estimated 1 per 385 infants suffer from maple syrup urine disease in the Old Order Mennonite population, Genetics Home Reference website
Prevalance Rate of Maple syrup urine disease: approx 1 in 384 or 0.26% or 706,493 people in USA [about data]
Prevalance of Maple syrup urine disease: The Mennonite community of Lancaster County, Pennsylvania is particularly afflicted by MSUD, with over 1 of 176 individuals affected. This is due to a high carrier rate of a mutation in the E1alpha-subunit of the BCKDH complex. By contrast, the disease is rare in the general population. (Source: Genes and Disease by the National Center for Biotechnology)

How serious is Maple syrup urine disease?

Prognosis of Maple syrup urine disease: death within days or within a year if untreated
Complications of Maple syrup urine disease: see complications of Maple syrup urine disease
Prognosis of Maple syrup urine disease: Left untreated, there is progressive neurodegeneration leading to death within the first months of life. (Source: Genes and Disease by the National Center for Biotechnology)

What causes Maple syrup urine disease?

Causes of Maple syrup urine disease: see causes of Maple syrup urine disease
Causes of Maple syrup urine disease: The underlying defect disrupts the metabolism of certain amino acids. These are amino acids that have a branched side chain. Because they cannot be fully broken down, they accumulate in the urine, along with their metabolites (alpha-ketoacids) to give the distinctive smell. (Source: Genes and Disease by the National Center for Biotechnology)

What are the symptoms of Maple syrup urine disease?

Symptoms of Maple syrup urine disease: see symptoms of Maple syrup urine disease

Complications of Maple syrup urine disease: see complications of Maple syrup urine disease

Onset of Maple syrup urine disease: first week of life

Can anyone else get Maple syrup urine disease?

More information: see contagiousness of Maple syrup urine disease
Inheritance: see inheritance of Maple syrup urine disease

Maple syrup urine disease: Testing

Diagnostic testing: see tests for Maple syrup urine disease.

Misdiagnosis: see misdiagnosis and Maple syrup urine disease.

How is it treated?

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

Name and Aliases of Maple syrup urine disease

Main name of condition: Maple syrup urine disease

Other names or spellings for Maple syrup urine disease:

MSUD, BCKD deficiency, branched-chain alpha-keto acid dehydrogenase deficiency, Branched-Chain ketoaciduria, ketoacidemia, Keto acid decarboxylase deficiency

Branched-chain keto acid decarboxylase deficiency Source - Diseases Database

Branched chain ketoaciduria
Source - WordNet 2.1

BCKD deficiency, Branched chain ketoaciduria, Branched-chain alpha-keto acid dehydrogenase deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Maple syrup urine disease: Related Conditions

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

 

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