Difference between revisions of "Maple Syrup Urine Disease 2012"
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== Biochemical disease mechanism == |
== Biochemical disease mechanism == |
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MSUD affects a protein called branched-chain alpha-keto acid dehydrogenase complex (BCKDHC), which is involved in the degradation of branched amino acids (Val, Leu, Ile). BCKDHC consists of four subunits: |
MSUD affects a protein called branched-chain alpha-keto acid dehydrogenase complex (BCKDHC), which is involved in the degradation of branched amino acids (Val, Leu, Ile). BCKDHC consists of four subunits: |
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| + | |||
| − | BCKDHA |
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| − | BCKDHB |
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| − | DBT |
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| − | DLT |
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{| |
{| |
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|- |
|- |
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| − | ! |
+ | ! subunit !! Überschrift !! Überschrift |
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|- |
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| − | | |
+ | | BCKDHA || Beispiel2 || Beispiel3 |
|- |
|- |
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| − | | |
+ | | BCKDHB || Beispiel5 || Beispiel6 |
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|- |
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| − | | |
+ | | DBT || Beispiel8 || Beispiel9 |
| + | |- |
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| + | | DLT || x || x |
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|} |
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Revision as of 13:27, 20 April 2012
Summary
place summary in here
Phenotype
Biochemical disease mechanism
MSUD affects a protein called branched-chain alpha-keto acid dehydrogenase complex (BCKDHC), which is involved in the degradation of branched amino acids (Val, Leu, Ile). BCKDHC consists of four subunits:
| subunit | Überschrift | Überschrift |
|---|---|---|
| BCKDHA | Beispiel2 | Beispiel3 |
| BCKDHB | Beispiel5 | Beispiel6 |
| DBT | Beispiel8 | Beispiel9 |
| DLT | x | x |
