Maple syrup urine disease

Common Name(s)

Maple syrup urine disease, Maple Syrup Urine Disease (MSUD)

Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. Beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and developmental delay. 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 untreated.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Maple syrup urine disease" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

Last Updated: 12 May 2015

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Maple Syrup Urine Disease Family Support Group

The MSUD Family Support Group is a nonprofit organization for those with MSUD and their families and includes health-care professionals and others interested in MSUD.

Last Updated: 15 Apr 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Maple syrup urine disease" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

View Details
Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

http://cfgd.cochrane.org

Last Updated: 12 May 2015

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Maple Syrup Urine Disease Family Support Group

The MSUD Family Support Group is a nonprofit organization for those with MSUD and their families and includes health-care professionals and others interested in MSUD.

http://www.msud-support.org

Last Updated: 15 Apr 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Maple syrup urine disease" returned 95 free, full-text research articles on human participants. First 3 results:

Case report: Aqueous and Vitreous amino-acid concentrations in a patient with maple syrup urine disease operated on rhegmatogenous retinal detachment.
 

Author(s): Menelaos G Kanakis, Helen Michelakakis, Petros Petrou, Chrysanthi Koutsandrea, Ilias Georgalas

Journal:

 

Maple syrup urine disease (MSUD) is a rare metabolic disorder, affecting the metabolism of branched chain amino-acids (Valine, Leukine, Isoleukine). We present a rare case of rhegmatogenous retinal detachment (RRD) in a MSUD patient.

Last Updated: 7 Oct 2016

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Isoleucine Deficiency in a Neonate Treated for Maple Syrup Urine Disease Masquerading as Acrodermatitis Enteropathica.
 

Author(s): Benjamin Ross, Manish Kumar, Hema Srinivasan, Alka V Ekbote

Journal: Indian Pediatr. 2016 Aug;53(8):738-40.

 

Special diet with restricted branched-chain-amino-acids used for treating maple syrup urine disease can lead to specific amino acid deficiencies.

Last Updated: 29 Aug 2016

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[GENETIC AND METABOLIC URGENCIES IN THE NEONATAL INTENSIVE CARE UNIT: MAPLE SYRUP URINE DISEASE].
 

Author(s): Paola Liliana Páez Rojas, Fernando Suarez Obando

Journal:

 

Maple syrup urine disease (MSUD) is a hereditary disorder of branched chain amino/keto acid metabolism, caused by a decreased activity of the branched-chain alpha- ketoacid dehydrogenase complex (BCKAD), which leads to abnormal elevated plasma concentrations of branched-chain amino ...

Last Updated: 12 Aug 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Maple syrup urine disease" returned 1 free, full-text review articles on human participants. First 3 results:

Markers associated with inborn errors of metabolism of branched-chain amino acids and their relevance to upper levels of intake in healthy people: an implication from clinical and molecular investigations on maple syrup urine disease.
 

Author(s): Hiroshi Mitsubuchi, Misao Owada, Fumio Endo

Journal: J. Nutr.. 2005 Jun;135(6 Suppl):1565S-70S.

 

Maple syrup urine disease (MSUD) is caused by a deficiency in the branched-chain alpha-ketoacid dehydrogenase complex. Accumulations of branched-chain amino acids (BCAAs) and branched-chain alpha-ketoacids (BCKAs) in patients with MSUD induce ketoacidosis, neurological disorders, ...

Last Updated: 2 Jun 2005

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.