Assessment
Questionnaire

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

Causes of Maple syrup urine disease

Causes of Maple syrup urine disease

Maple syrup urine disease is caused by a mutation in the BCKDHA, BCKDHB, DBT, or DLD gene. These four genes make a protein complex that is required to metabolize protein.

Maple syrup urine disease: Related Medical Conditions

To research the causes of Maple syrup urine disease, consider researching the causes of these these diseases that may be similar, or associated with Maple syrup urine disease:

Maple syrup urine disease: Causes and Types

Causes of Broader Categories of Maple syrup urine disease: Review the causal information about the various more general categories of medical conditions:

What causes Maple syrup urine disease?

Causes: 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)

Related information on causes of Maple syrup urine disease:

As with all medical conditions, there may be many causal factors. Further relevant information on causes of Maple syrup urine disease may be found in:

 

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