Maple Syrup Urine Disease: a Dreaded Recessive Abnormality

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Maple Syrup Urine Disorder (MSUD) is a genetic disorder caused from a mutation arising from a deficiency in one of six proteins that collectively form the branched-chain alpha-keto acid dehydrogenase (BCKD) complex (Genetic Science Learning Center). MSUD is characterized by heightened plasma levels in the branched-chain amino acids and excretion of branched-chain keto acids producing a maple syrup aroma (Pangkanon, Charoensiriwatana, and Sangtawesin 41-43). MSUD is an autosomal recessive disorder which means an individual must inherit a copy of the MSUD gene from both of his/her parents to be affected. There are currently five clinical classifications for phenotypes of MSUD based on tolerance to dietary protein, clinical presentation and trials, enzyme levels and response to thiamine. The five phenotypes are: classic, intermediate, intermittent, thiamine-responsive, and E3-deficient types. The classic form of MSUD is the most common form which accounts for 75% of MSUD patients. The classic form is also the most severe of the five phenotypical forms. Depending on the severity there are multiple symptoms which are characteristic of MSUD. Symptoms can be mild such as weakness, feeding problems, and lethargy or the symptoms can be severe such as seizures, mental retardation, delayed motor development and brain edema. The severity of an individual’s symptoms corresponds to the form of MSUD they have. Untreated affected individuals with classic MSUD die within the beginning months due to persistent metabolic abnormalities and neurological degeneration. There is currently no cure for MSUD; however, it can be treated through life-long dietary management and aggressive management during delicate metabolic cycles. MSUD is a rare disease aff...

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...ound prior to these tests. This resulted in the complete removal of exon six in the mRNA.

Works Cited

Georgiou, Theodoros, Jacinta Chuang, Max Wynn, Goula Stylianidou, Mark Korson, David

Chuang, and Anthi Drousiotou. "Maple Syrup Urine Disease in Cypriot Families: Identification of Three Novel Mutations and Biochemical Characterization of the p.Thr211Met Mutation in the E1α Subunit." PubMed Central. (2009): n. page. Web. 4 Dec. 2011. .

"Novel mutation." Genetics Home Reference. U.S. National Library of Medicine, 28 11 2011. Web.

4 Dec 2011. .

Pangkanon, uthipong, Wiyada Charoensiriwatana, and Varaporn Sangtawesin. "Maple Syrup

Urine Disease in Thai Infants." Journal of The Medical Associations of Thailand. 91.

(2008): 41-43. Print.

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