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A 47-year-old member asked:

Which particular type of person can be affected by maple syrup urine disease?

1 doctor answer1 doctor weighed in
Dr. John Nesbitt
A Verified Doctoranswered
Urology 42 years experience
Genetic: This disease is genetic, passed down from affected parents. It has a higher prevalence in persons of amish, mennonite, and jewish descent.

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A 42-year-old member asked:

What puts a person at risk for maple syrup urine disease?

2 doctor answers2 doctors weighed in
Dr. John Tillett
Urology 23 years experience
MSUD: Msud is a genetic, inherited disorder that involves an abnormality in the way your body processes amino acids. It is inherited in an autosomal recessive pattern, meaning that you need two copies of the defective gene, one from each parent, to exhibit signs of the disease. In other words, to be at ris for msud, both parents need to be carriers of the gene, or suffer from msud themselves.
A 41-year-old member asked:

Hows maple syrup urine disease diagnosed?

1 doctor answer2 doctors weighed in
Dr. Quresh Khairullah
Nephrology and Dialysis 43 years experience
See below: The diagnostic test for this condition is the measurement of blood Amino Acid concentrations. Affected patients have elevated levels of Amino Acids (leucine, isoleucine, and valine). Urine organic acid measurement will detect elevated levels of branched-chain ketoacids, lactate, and pyruvate.
CA
A 33-year-old male asked:

What is the definition or description of: Maple syrup urine disease?

1 doctor answer2 doctors weighed in
Dr. Pierrette Mimi Poinsett
Pediatrics 39 years experience
Maple Syrup Urine: disease is an inherited metabolic disorder in which the body is unable to process certain protein building blocks (amino acids) . Also known as branched chain ketoaciduria. People with this disorder have urine that smells like maple syrup as a result. The smell is from the buildup of certain amino acids and toxic byproducts in the urine and sweat.

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Last updated Dec 20, 2013
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