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Maple Syrup Urine Disease
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Maple Syrup Urine Disease
- Sweet odored urine
- Vomiting
- Lack of energy
- Abnormal movements
- Lack of development (Children)
By: James Couture
What causes M.S.U.D
What Gene Does This Effect?
Maple Syrup Urine Disease occurs most commonly in infants just after being born. This is because the disease is inherited and runs throughout the family. M.S.U.D. can happen to anyone, but most of the diagnosis' are to babies.
A gene that moves chemicals called branched-chain alpha-keto acid dehydrogenase complex also known as BCKDC; when the BCKDC is defected, it can make a buildup of ketoacids that can go into the blood and urine. The gene is located on the arm of Chromosome 19!
What Is Maple Syrup Urine Disease?
Maple Syrup Urine Disease is an inherited disorder in which the body is unable to process certain protein monomers properly. M.S.U.D is a metabolic problem when a certain gene has defects and cannot break down protein components.
What Type of Inheritance is M.S.U.D.?
Punnet Square & Pedigree!
Maple Syrup Urine Disease is an autosomal recessive inheritance that is passed down through families. An autosomal recessive disorder means two copies of a gene must be present in order for the disease to show up.
Resources
https://www.epainassist.com/metabolic-disorders/maple-syrup-urine-disease-or-msud
https://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease#
What a Person With M.S.U.D. Has To Deal With
People who need treatment have to use insulin infusions to promote anabolism. People who have Maple Syrup Urine Disease have to take these daily. The best sale for insulin is around $390 per year.
https://rarediseases.info.nih.gov/diseases/3228/maple-syrup-urine-disease
https://medlineplus.gov/ency/article/002052.htm
https://ghr.nlm.nih.gov/gene/BCKDHA#location
Symptoms
https://medlineplus.gov/ency/article/000373.htm