A 44-year-old member asked:
how is maple syrup urine disease diagnosed?
1 doctor answer • 1 doctor weighed in
Dr. Brandon Greene answered
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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Similar questions
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 answers • 6 doctors weighed in
Dr. Jon Ahrendsen answered
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.
6186 views
A 34-year-old member asked:
What is the history of one with maple syrup urine disease?
1 doctor answer • 1 doctor weighed in
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.
5738 views
A 35-year-old member asked:
Besides maple syrup urine disease, what are some causes of urine that smells sweet?
1 doctor answer • 2 doctors weighed in
Dr. Roman Bronfenbrener answered
Dermatology 9 years experience
Diabetes: Diabetes mellitus.
5754 views
A 41-year-old member asked:
Hows maple syrup urine disease diagnosed?
1 doctor answer • 2 doctors weighed in
Dr. Quresh Khairullah answered
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.
5754 views
A 42-year-old member asked:
What should I expect after being diagnosed with maple syrup urine disease?
1 doctor answer • 1 doctor weighed in
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.
5340 views
90,000 U.S. doctors in 147 specialties are here to answer your questions or offer you advice, prescriptions, and more. Get help now:
Last updated Oct 20, 2015
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