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Maple Syrup Urine Disease
14
Maple Syrup Urine Disease
By Cat Williams & Locker 13
MSUD is also known as:
BCKD deficiency
branched-chain alpha-keto acid dehydrogenase deficiency
branched-chain ketoaciduria
ketoacidemia
MSUD
What is Maple Syrup Urine Disease?
The instance that both parents are carriers is
very rare.
MSUD is also known as:
1)BCKD deficiency
branched-chain alpha-keto acid dehydrogenase deficiency
2)branched-chain 3)ketoaciduria
4)ketoacidemia
Autosomal or sex-linked?
An autosome is a chromosome that isn't a gamete, or a sex celll.
MSUD is an autosomal disorder, specifically on the BCKHDA gene on chromosome 19.
Maple Syrup Urine Disease is extremely recessive.
If both parents are carriers of MSUD, each of their children has a 1 in 4 chance of getting the disorder, and a 1 in 2 chance of being a carrier.
Recessive or Dominant?
Bibliography
Sources
Images
-Punnett Square:
https://2011gtms8g.wikispaces.com/file/view/hensleyt_punnett_square.png/233829388/320x239/hensleyt_punnett_square.png
-Autosomal Recessive:
http://ghr.nlm.nih.gov/handbook/illustrations/autorecessive.jpg
Maple syrup urine disease. (2015, January 12). Retrieved January 17, 2015, from http://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease
Maple syrup urine disease: MedlinePlus Medical Encyclopedia. (2015, January 12). Retrieved January 17, 2015, from http://www.nlm.nih.gov/medlineplus/ency/article/000373.htm
Board, A. (2013, May 7). Maple Syrup Urine Disease. Retrieved January 17, 2015, from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001411/
Maple Syrup Urine Disease (MSUD). (n.d.). Retrieved January 17, 2015, from http://learn.genetics.utah.edu/content/disorders/singlegene/msud/
Diagnosis and Treatment
Many states now screen all newborns with blood tests for MSUD. If blood tests show positive, a follow-up blood test for amino acid levels is done immediately to confirm.
The initial two tests are the Plasma amino acid test and the
Urine amino acid test.
Diagnosis
Treatment
Treatment requires a special diet. The diet is completely protein free and includes a formula with low levels of certain amino acids.
Frequent blood tests and close supervision by a registered dietitian and a physician are also required.
Symptoms and Effects
Symptoms
Avoiding food
Urine that smells like maple syrup
Vomiting
Coma
Seizures
Extreme fatigue
Effects
If not properly treated, MSUD
can have these