A 47-year-old member asked:
which particular type of person can be affected by maple syrup urine disease?
1 doctor answer • 1 doctor weighed in

A Verified Doctoranswered
A US doctor answeredLearn more
Genetic: This disease is genetic, passed down from affected parents. It has a higher prevalence in persons of amish, mennonite, and jewish descent.
5.5k viewsAnswered >2 years agoMerged
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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 answers • 6 doctors weighed in

Dr. Jon Ahrendsenanswered
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.
6.2k viewsReviewed >2 years ago
A 40-year-old member asked:
What are the risks for maple syrup urine disease?
1 doctor answer • 1 doctor weighed in

Dr. Cayce Jehaimianswered
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.
5.7k viewsAnswered >2 years ago
A 45-year-old member asked:
What chromosome is affected in msud (maple syrup urine disease)?
2 doctor answers • 3 doctors weighed in

Dr. Scott McLeananswered
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.
5.8k viewsReviewed >2 years ago
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 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.
5.8k viewsReviewed >2 years ago
A 29-year-old member asked:
Questions on maple syrup urine disease? Do the amish mainly get it?
1 doctor answer • 3 doctors weighed in

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.
5.7k viewsReviewed >2 years ago
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Last updated Dec 20, 2013
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