Assessment
Questionnaire

Have a symptom?
See what questions
a doctor would ask.
 

Maple syrup urine disease

Maple syrup urine disease: Introduction

Maple syrup urine disease: Maple Syrup Urine Disease (MSUD) is an inherited disorder so named because one of its first signs is urine that has an odor reminiscent of maple syrup. (Source: Genes and Disease by the National Center for Biotechnology) ... more about 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. More detailed information about the symptoms, causes, and treatments of Maple syrup urine disease is available below.

Symptoms of Maple syrup urine disease

Home Diagnostic Testing

Home medical testing related to Maple syrup urine disease:

Wrongly Diagnosed with Maple syrup urine disease?

Maple syrup urine disease: Related Patient Stories

Maple syrup urine disease: Deaths

Read more about Deaths and Maple syrup urine disease.

Maple syrup urine disease: Complications

Review possible medical complications related to Maple syrup urine disease:

Causes of Maple syrup urine disease

Read more about causes of Maple syrup urine disease.

Disease Topics Related To Maple syrup urine disease

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

Maple syrup urine disease: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Maple syrup urine disease

Interstitial cystitis an under-diagnosed bladder condition: The medical condition of interstitial cystitic is a bladder condition that can be misdiagnosed...read more »

Maple syrup urine disease: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Hospitals & Clinics: Maple syrup urine disease

Research quality ratings and patient safety measures for medical facilities in specialties related to Maple syrup urine disease:

Choosing the Best Hospital: More general information, not necessarily in relation to Maple syrup urine disease, on hospital performance and surgical care quality:

Evidence Based Medicine Research for Maple syrup urine disease

Medical research articles related to Maple syrup urine disease include:

Click here to find more evidence-based articles on the TRIP Database

Prognosis for Maple syrup urine disease

Prognosis for Maple syrup urine disease: death within days or within a year if untreated

Research about Maple syrup urine disease

Visit our research pages for current research about Maple syrup urine disease treatments.

Statistics for Maple syrup urine disease

Maple syrup urine disease: Broader Related Topics

User Interactive Forums

Read about other experiences, ask a question about Maple syrup urine disease, or answer someone else's question, on our message boards:

Article Excerpts about Maple syrup urine disease

Maple Syrup Urine Disease (MSUD) is an inherited disorder so named because one of its first signs is urine that has an odor reminiscent of maple syrup. (Source: Genes and Disease by the National Center for Biotechnology)

Definitions of 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)

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

Related Maple syrup urine disease Info

Videos about Maple syrup urine disease

 

Forum Discussions about Maple syrup urine disease

More information about Maple syrup urine disease

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

By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise