Maple Syrup Urine Disease

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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 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 ggaggcttgc cgcaaaatca 901 gggtagggct cctttagcgc cttgtcttat tgtattgaat gaggggcagg cggttcctgg 961 gtcttggctt ttttcccagg ctctaaggca gataggtcta acttgctcag tggcctcatt 1021 ttacattatt gcttgttaat tagtagtgct ccaattttga cctgttccta atagttgatc 1081 tgcatctatg ttaactggag gattggcagc cctatttttt tggacctgtt cttgtgcccc 1141 atcaatccac caagtcttca ccaagtctta aattgtaaac attgagaggg tgagagcgat 1201 catttggcca aaatctccca atcataaaga atgagtctat gtccatgagc aatggaatct 1261 aataatgtcc tcatataagg ggagttgggt ccatactgtt ttactccctc tttcatatct 1321 tttagcattt ttatggaaaa ggactcatat ctggcctcag ctaggggagg cgctccctct 1381 tgggcctctt cttcaggtgg tatcggttct aatattactg ggaattgcca tgcctcggta 1441 tctccttgtt ttcttgcctt atcaataatt ttatgtaatg cactaccctg tccactaggt 1501 ggtggtgtag gattaaatct catagtgggc tgctgaggat atagcgccct gccctgtggt 1561 gctggaaaca ttcctggctg tccatactga ttttctgggg gcggctgatc ctgaagttcg 1621 gctggcggcc agtattgata ggttactggc ggttgggtct tattttccac cggctgatat 1681 tgtggatact gtatttggat tggcattgcc gtgacagaga ctctatcttt ccctatttga 1741 tattcttttg gggtttgtac ttgtctaacc tgcatttgag gttgtaatgt tacaggcatc 1801 tgaactgctg ggagaggagt tggccatcgt ggtttagact ctgatggccc cactaattct 1861 ggaccttttt cttctaattt taacatttca ggatatatca cttcctgtaa ttgattatag 1921 tcaacatttt gcattgaccg aaccattacc ggctctgcta catatttaca atgtgaactt 1981 tccgttcctt tcccagattc tatccctgcc tcttcttcac aatctattac acattttcca 2041 gggcatcaga aactgaaatg ctatcttctc ctgtttgaaa cagttctaaa gctactttaa 2101 taatggccca atcattccat actgtaagtg ggatgatttt accctcccta cttgcttgtt 2161 ttaattcttt gccaattttt tcccaatctt ttagatctaa agttccccgt tctagaaacc 2221 atgggcagaa ttgttctatt gtttgaaata gagtgattag attttttttg tagagactct 2281 gactccccct ctttttaaaa gaattttaat ggagctaaga ggcatattta cttttagttt 2341 gtcccattgt taccctggct tcttctgagc gcacaagttt accgcaaagg gtgaccatag 2401 acgtactcag gaatctctcg ttgacttgtc ctcattgacc acgctcgagc gtaccttcac 2461 cctagagaaa agcacctacg ttggacaccc gatgaaggag tggcctgccc ctccacacct 2521 gtgggtgttt ctcgtcaggt ggaatgagag acttgagaaa agaaagagac acagaaacaa...
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