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Condition: Maple Syrup Urine Disease

Maple Syrup Urine Disease is a genetic disorder caused by mutation in the DBT, DLD, BCKDHB, and BCKDHA genes, which codes for Branched Chain Keto Acid Dehydrogenase (BCKD). Normally, BCKD would process the keto acid derivatives for leucine, isoleucine, and valine and continue them on their respective metabolic pathways. As a result of these breaks in the metabolic pathway, the patient may suffer from mental retardation, lethargy, poor feeding habits, vomiting, and seizures early in life. The name of this disease comes from its most distinctive symptom, the patient's urine having a burnt-caramel smell.

Protein: Branched Chain Keto Acid Dehydrogenase

Sequence for BCKDHA:

1 aggaataatt aagcaatcct gtctcctgga ctggcactcc aaggaactga ggagctaata
61 accaattgaa tttcgacttt gtagtctgaa tcaaccacac cagtatgaat ttgaactccc
121 tttagattta gactcgatct tcctgagatt agtcctacag tcccctcagg ccgtgggcca
181 tatatccctg tggggatttt......

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Approximate Word Count: 5032
Approximate Pages: 21 (250 words per double-spaced page)

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