Maple Syrup Urine Disease Essay

3488 Words Sep 18th, 2006 14 Pages
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
…show more content…
gga 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 3241 cttttttaac aaagcacatc ctgcatagcc ctaaatccat taaaccttga gtcaacacag 3301 cacatgtttc agggagcaca aggttggggg tagggttaca gattaatagc atctcaaggc 3361 agaggaattt ttcttagtac agaacaaaat ggagtctctt atgtctactt ctttctacat 3421 agacacagta agaggctgat ctctctttct tttccccaca aagaccagct tggccaacat 3481 ggtgaaaccc tgtctctact aaaaatacaa aaaaatttag ccaggcatga tggcacacgc 3541 agggattccc agctaccttg gagctgaggc aagagaattg cttgaatcca ggaggtggag 3601 gttgcagtga accgagatca caccactgca cttcagcctg ggcaacagag caggactcca 3661 cctcaaaaaa aaaaaaaaaa aaaaaagaat gcaccatttc gcctcatctc tcagcatttg 3721 acataaccga tcattccttc ttaaaacact ttttttggaa aatatgggtg gagccaagat 3781

Related Documents