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
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