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maple syrup urine disease in adults

A 47-year-old member asked:
Dr. Joanne Peck
45 years experience in Pediatrics
A genetic disease: Infants with msud lack an enzyme to break down Amino Acids (proteins) in their diet, so the acids accumulate in their blood and tissues and become tox ... Read More
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A 53-year-old member asked:
Dr. Vered Lewy-Weiss
27 years experience in Pediatrics
Good Info Here: Please check out this website. It has really good information and should be resourceful for you. http://msud-support.org/.
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A 49-year-old member asked:
Dr. Quresh Khairullah
41 years experience in Nephrology and Dialysis
See below: The diagnostic test for this condition is the measurement of blood Amino Acid concentrations. Affected patients have elevated levels of Amino Acids ( ... Read More
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A 50-year-old member asked:
Dr. Linda DiMeglio
27 years experience in Pediatric Endocrinology
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 informat ... Read More
A 38-year-old member asked:
Dr. John Nesbitt
40 years experience in Urology
Chromosome 19: Msud results from a defect in chromosome 19 in one if the 6 subunit genes in the bckhda complex.
A 53-year-old member asked:
Dr. Scott McLean
34 years experience in Clinical Genetics
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 ... Read More
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A 39-year-old member asked:
Dr. Christopher Abel
25 years experience in Pediatrics
Depends: The earlier the disease is detected and the patient is placed on an appropriate diet, the better the long term prognosis is.
A 41-year-old member asked:
Dr. Martin Raff
55 years experience in Infectious Disease
Varies: This autosomal recessive genetic disorder of branched chain ketoaciduria requires testing and strict dietary adherence for management. If this is fol ... Read More
A 49-year-old member asked:
Dr. Brandon Greene
8 years experience in Pediatrics
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 ... Read More
A 44-year-old member asked:
Dr. Vered Lewy-Weiss
27 years experience in Pediatrics
Not Yet: Msud is a very rare genetic d/o where one is unable to break down the Amino Acids (aa): leucine, isoleucine, & valine. The degree to which an individu ... Read More
A 39-year-old member asked:
Dr. Derrick Lonsdale
72 years experience in Preventive Medicine
Probably not: This disease is because of a defect in metabolism of leucine, isoleucine and valine, all present in protein. I believe that mead johnosn may be making ... Read More
A 41-year-old member asked:
Dr. Vered Lewy-Weiss
27 years experience in Pediatrics
Lots of info: Please see this website for info: www.Msud-support.Org it has lots of great information for families.
A 44-year-old member asked:
Dr. Quresh Khairullah
41 years experience in Nephrology and Dialysis
See below: The diagnostic test for this condition is the measurement of blood Amino Acid concentrations. Affected patients have elevated levels of Amino Acids ( ... Read More
A 47-year-old member asked:
Dr. Scott McLean
34 years experience in Clinical Genetics
Blood tests: Maple syrup urine disease is a genetic condition in which you are not able to metabolize certain Amino Acids (val, leu, ile). They build up in the bod ... Read More
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A 46-year-old member asked:
Dr. Cornelia Franz
Specializes in Pediatrics
Geneticist: You can google it....I found that it has a high mortality rate if untreated but treated people can do well. You can also consult with a geneticist. It ... Read More
A 53-year-old member asked:
Dr. Robert Bennett
29 years experience in Urology
MAPLE: Yes, here's a link www.Msud-support.Org/..._content&view=section&id=5&itemid=10.
A 50-year-old member asked:
Dr. Linda DiMeglio
27 years experience in Pediatric Endocrinology
Menke: A good history seems to be here: http://www.Diet.Com/g/maple-syrup-urine-disease.
A 42-year-old member asked:
Dr. Vered Lewy-Weiss
27 years experience in Pediatrics
Lots of info: Please see this website for info: www.Msud-support.Org it has lots of great information for families.
A 43-year-old member asked:
Dr. Roman Bronfenbrener
8 years experience in Dermatology
Diabetes: Diabetes mellitus.
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A 48-year-old member asked:
Dr. Cayce Jehaimi
20 years experience in Pediatric Endocrinology
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 va ... Read More
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A 50-year-old member asked:
Dr. John Tillett
21 years experience in Urology
MSUD: Msud is a genetic, inherited disorder that involves an abnormality in the way your body processes amino acids. It is inherited in an autosomal recess ... Read More

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