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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:


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