A 42-year-old member asked:
Who was the first ti discover maple syrup urine disease?
1 doctor answer • 3 doctors weighed in
Dr. Heidi Fowleranswered
Psychiatry 27 years experience
Maple Syrup Urine: disease was discovered by a pediatrician named Dr. John Menkes in 1954 .
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531 viewsReviewed >2 years ago
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A 41-year-old member asked:
Hows maple syrup urine disease diagnosed?
1 doctor answer • 2 doctors weighed in
Dr. Quresh Khairullahanswered
Nephrology and Dialysis 44 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.
Created for people with ongoing healthcare needs but benefits everyone.
5.8k viewsReviewed >2 years ago
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A 33-year-old male asked:
What is the definition or description of: Maple syrup urine disease?
1 doctor answer • 2 doctors weighed in
Dr. Pierrette Mimi Poinsettanswered
Pediatrics 40 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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838 viewsReviewed >2 years ago
A 39-year-old member asked:
What are the symptoms of maple syrup urine disease?
1 doctor answer • 1 doctor weighed in
Dr. Derrick Lonsdaleanswered
Preventive Medicine 75 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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5.8k viewsAnswered >2 years ago
A 30-year-old member asked:
What are some of the difficulties with having maple syrup urine disease?
1 doctor answer • 1 doctor weighed in
Dr. Ashu Syalanswered
Pediatrics - Nephrology & Dialysis 32 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.
5.4k viewsAnswered >2 years ago
A 42-year-old member asked:
Can you explain maple syrup urine disease?
1 doctor answer • 1 doctor weighed in
Dr. Linda DiMeglioanswered
Pediatric Endocrinology 30 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/.
Created for people with ongoing healthcare needs but benefits everyone.
5.4k viewsAnswered >2 years ago
Last updated Nov 28, 2017
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