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A 44-year-old member asked:

how is maple syrup urine disease diagnosed?

1 doctor answer1 doctor weighed in
Dr. Brandon Greene
Pediatrics 9 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 40-year-old member asked:

Besides maple syrup urine disease, are there some other causes of urine that smells sweet like syrup?

2 doctor answers6 doctors weighed in
Dr. Jon Ahrendsen
Family Medicine 39 years experience
Possibly diabetes: To my knowledge, uncontrolled diabetes might also cause this, but i would expect the person to also have weight loss, and frequent urination besides just a sweet smell to the urine.
A 34-year-old member asked:

What is the history of one with maple syrup urine disease?

1 doctor answer1 doctor weighed in
Dr. Vered Lewy-Weiss
A Verified Doctor answered
A US doctor answered Learn more
Lots of info: Please see this website for info: www.Msud-support.Org it has lots of great information for families.
A 35-year-old member asked:

Besides maple syrup urine disease, what are some causes of urine that smells sweet?

1 doctor answer2 doctors weighed in
Dr. Roman Bronfenbrener
Dermatology 9 years experience
Diabetes: Diabetes mellitus.
A 41-year-old member asked:

Hows maple syrup urine disease diagnosed?

1 doctor answer2 doctors weighed in
Dr. Quresh Khairullah
Nephrology and Dialysis 42 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.
A 42-year-old member asked:

What should I expect after being diagnosed with maple syrup urine disease?

1 doctor answer1 doctor weighed in
Dr. Vered Lewy-Weiss
A Verified Doctor answered
A US doctor answered Learn more
Lots of info: Please see this website for info: www.Msud-support.Org it has lots of great information for families.

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Last updated Oct 20, 2015

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