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

View Details
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 83 free, full-text research articles on human participants. First 3 results:

Biochemical correlates of neuropsychiatric illness in maple syrup urine disease.
 

Author(s): Emilie R Muelly, Gregory J Moore, Scott C Bunce, Julie Mack, Don C Bigler, D Holmes Morton, Kevin A Strauss

Journal: J. Clin. Invest.. 2013 Apr;123(4):1809-20.

 

Maple syrup urine disease (MSUD) is an inherited disorder of branched chain amino acid metabolism presenting with neonatal encephalopathy, episodic metabolic decompensation, and chronic amino acid imbalances. Dietary management enables survival and reduces risk of acute crises. Liver ...

Last Updated: 1 Apr 2013

Go To URL
Placental stem cell correction of murine intermediate maple syrup urine disease.
 

Author(s): Kristen J Skvorak, Kenneth Dorko, Fabio Marongiu, Veysel Tahan, Marc C Hansel, Roberto Gramignoli, K Michael Gibson, Stephen C Strom

Journal: Hepatology. 2013 Mar;57(3):1017-23.

 

There is improved survival and partial metabolic correction of a mouse intermediate maple syrup urine disease (iMSUD) model after allogenic hepatocyte transplantation, confirming that a small number of enzyme-proficient liver-engrafted cells can improve phenotype. However, clinical ...

Last Updated: 4 Mar 2013

Go To URL
Maple syrup urine disease: new insights from a zebrafish model.
 

Author(s): Nathan B Roberts

Journal: Dis Model Mech. 2012 Jul;5(4):417-8.

 

Last Updated: 25 Jun 2012

Go To URL

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 2 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

Go To URL
Molecular basis of maple syrup urine disease and stable correction by retroviral gene transfer.
 

Author(s): D T Chuang, J R Davie, R M Wynn, J L Chuang, H Koyata, R P Cox

Journal: J. Nutr.. 1995 Jun;125(6 Suppl):1766S-1772S.

 

Maple syrup urine disease (MSUD) or branched-chain ketoaciduria is caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase (BCKAD) complex. This results in the accumulation of the branched-chain amino acids (BCAA) and branched-chain alpha-keto acids (BCKA), which ...

Last Updated: 18 Jul 1995

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Phenylbutyrate Therapy for Maple Syrup Urine Disease
 

Status: Recruiting

Condition Summary: Maple Syrup Urine Disease

 

Last Updated: 6 Feb 2013

Go to URL