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A 42-year-old member asked:

Can you explain maple syrup urine disease?

1 doctor answer1 doctor weighed in
Dr. Linda DiMeglio
Pediatric Endocrinology 29 years experience
Genetic disorder: Maple syrup urine disease is an inherited genetic disorder of protein breakdown. It is now often diagnosed by newborn screen. A good general information site can be found at http://www.Ncbi.Nlm.Nih.Gov/pubmedhealth/pmh0001411/.
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A 39-year-old member asked:

What are the symptoms of maple syrup urine disease?

1 doctor answer1 doctor weighed in
Dr. Derrick Lonsdale
Preventive Medicine 74 years experience
Mental retardation: This disease occurs statistically in 1 in 10000 births. Urine smells exactly the same as the vermont maple syrup. Being recessive, both parents have to give the gene to theiroffspring. That is why it is more risky to marry a cousin.
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A 30-year-old member asked:

What are some of the difficulties with having maple syrup urine disease?

1 doctor answer1 doctor weighed in
Dr. Ashu Syal
Pediatrics - Nephrology & Dialysis 31 years experience
Maple syrup urine di: Neurological damage, increased risk with infections and periods of body stress. Diet free of leucine, isolucine, and valine is recommended.
Created for people with ongoing healthcare needs but benefits everyone.
A 44-year-old member asked:

How is maple syrup urine disease diagnosed?

1 doctor answer1 doctor weighed in
Dr. Brandon Greene
Pediatrics 10 years experience
Newborn screen: In the US, MSUD is part of the newborn screen all babies get before leaving the hospital, but it's usually symptomatic in the first weeks after birth when amino acids start to accumulate in the blood. Symptoms are poor feeding, irritability, seizures, and smelly urine. Definitive test is quantitative plasma amino acids, and is usually done on day of life 2 if there is a family history of MSUD.
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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.
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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.
Created for people with ongoing healthcare needs but benefits everyone.

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Last updated Dec 9, 2012

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