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- Genes and Disease: 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. 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. Left untreated, there is progressive neurodegeneration leading to death...
National Center for Biotechnology Information
- Maple syrup urine disease
Maple syrup urine disease is an inherited disorder in which the body is unable to process certain amino acids (the building blocks of proteins) properly. From early infancy, the condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and mental retardation. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. Maple syrup urine disease can be life-threatening if left untreated. Maple syrup...
Genetics Home Reference
Organizations
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- Maple Syrup Urine Diseases Family Support Group - http://www.msud-support.org/
News
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- Cold medicine not for little children
The Earth Times - Fri, 02 Mar 2007 02:46 EST
- Actavis Receives Approval For Ranitidine Syrup In The U.S.
MedicalNewsToday - Sat, 03 Mar 2007 08:00 EST
- New Deformable Mirror To Enhance Retinal Imaging Systems For Earlier Detection Of Eye Diseases
MedicalNewsToday - Sat, 27 Jan 2007 09:00 EST
- About That High Fructose Corn Syrup...
Washington Post - Tue, 06 Feb 2007 04:34 EST
- Stealth Calories
Washington Post - Tue, 06 Feb 2007 05:00 EST
Clinical Trials
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- CSII in Adolescents With Newly Diagnosed T1D
ClinicalTrials.gov Identifier: NCT00357890 - Recruiting
Type 1 DM
- Iron Depletion Therapy for Type 2 DM and NAFLD
ClinicalTrials.gov Identifier: NCT00230087 - Recruiting
Non-Alcoholic Fatty Liver Disease; Diabetes Mellitus
- Ezetimibe (+) Simvastatin Vs. Atorvastatin Comparative Study in DM or Metabolic Syndrome Patients
ClinicalTrials.gov Identifier: NCT00157924 - Active, not recruiting
Hypercholesterolemia
- Sulfonylurea Effects on Glucagon Regulation During Hypoglycemia in Type 1 DM
ClinicalTrials.gov Identifier: NCT00515801 - Recruiting
Diabetes Mellitus, Type 1
- Pioglitazone Protects DM Patients Against Re-Infarction (PPAR Study)
ClinicalTrials.gov Identifier: NCT00212004 - Recruiting
Diabetes Mellitus; Myocardial Infarction

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