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 tttgtggggg ctccctggaa gcagagagac tgcttgtata
241 gtacacaaat ctactgctgc actgccgctt gtggccgggg acagttgctg tattgtggta
301 actggcccat tccctgaagc acttgtgaca gtgggggttg ttgtccctga aaaccctgag
361 gaacaaaggg ctaaattggg aatgccccag tttgttgcgg ggcctgaggc tggcccctct
421 tctcgtttcc cgacaatggt tgcccatttt tatcaaattt agaatgacat tgactagccc
481 aatgttttcc ttttttacct cttggacata agtcaggtgg ctctttatct gttcttgtag
541 tagtttgaat agttatattt tgtttatttg aggctgggca attctttttt tgatgaccaa
601 tttgtccaca attataacat tttcccctaa atgttctaac ttgtcctcct aaagcaagtc
661 ccgttattgc ttgagcgata agcatagctt tatgcatagc tcctccaatt ccatcacagg
721 cttttacgta ctcttgagat tacatctgat cccactggga cctttccttt taatggttta
781 atggctgatt gacactcagg attggcattt tcgtatgcca tcaactccac tatgacctta
841 cgggcattct cattggtaat tgacttttga gcagcatctt..Urine therapy refers to one of several uses of urine to prevent or cure sickness, to enhance beauty, or to cleanse one's bowels. Most devotees drink the midstream of their morning urine. Some prefer it straight and steaming hot; others mix it with juice or serve it over...