Maple Syrup Urine Disease

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

2581 agtatagaga aagaaaagtg ggcccagggg accggcgctc accatacgga ggacccgcgc

2641 cagcactggt ctctgagttc tctcagtgtt tatggatcat tatctctacc atcttggaga

2701 gggggatgtg gcaggaccgt agggtaatag tggggagagg gtcagcagga aaacatgtga

2761 acagaggtct ttgtgtcata aataagttta aggaaaggtg ctgtgccttg atgtacatgt

2821 atacaaacat ctcggtgcat taaatagcag tattgctgct agcacgtctc acctccagcc

2881 ctaaggcagt tttcttctat ctcagtaaat agaacataca attgggtttt acactgagac

2941 attctattgc ccagggacaa gcaggagaca ggtgccttcc tcttatctca actgcagaga

3001 ggccttcctc ttttactaat cctcctcagc acagaccctt tacgggtgtt gggctggggg

3061 gcggtcaggt tttcccttcc cacgaggcca tatctcaggc tatcacatgg agagaaacct

3121 tggacaatac ctggctttcc taggcagagg ttcctgtggc cttccacagt gtattgtgtc

3181 cctgggtact tgagattaga gaatggtgat gacttttaac aagcacgctg ccttcaagca