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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 28 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 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 40-year-old member asked:

What are the risks for maple syrup urine disease?

1 doctor answer1 doctor weighed in
Dr. Cayce Jehaimi
Pediatric Endocrinology 21 years experience
Brain damage: Maple syrup urine disease (msud) is caused by a gene defect. Persons with this condition cannot break down the Amino Acids leucine, isoleucine, and valine. This leads to a buildup of these chemicals in the blood. In the most severe form, msud can damage the brain during times of physical stress (such as infection, fever, or not eating for a long time). Some types of msud are mild however.
A 45-year-old member asked:

What chromosome is affected in msud (maple syrup urine disease)?

2 doctor answers3 doctors weighed in
Dr. Scott McLean
Clinical Genetics 35 years experience
1, 6, and 19: Msud is caused when a tightly clustered group of proteins [branched-chain ketoacid dehydrogenase] does not work properly. This multienzyme complex has three subunits encoded by four different genes. Three of them - on chromosomes 1, 6, and 19, have been found to have mutations that can result in msud. The msud family support group (http://www.Msud-support.Org/) has more information.
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 29-year-old member asked:

Questions on maple syrup urine disease? Do the amish mainly get it?

1 doctor answer3 doctors weighed in
Dr. Vered Lewy-Weiss
A Verified Doctoranswered
A US doctor answeredLearn more
More common: For a rare disease, msud is much more prevalent among the old order mennonite population in lancaster county, pa. Incidence rates are estimated around 1:760 births as opposed to a worldwide incidence of 1:290, 000.

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Last updated Dec 9, 2012

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