5 genes annotated in human
An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.
In addition to gene-name show these genes:
Click on a gene's description to view its network relationships with genes known to be involved in "maple syrup urine disease"
|Name||Description||Probability||Func Analog Organism|
|NDUFS1||NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)||0.090|
|PDHX||pyruvate dehydrogenase complex, component X||0.019|
|MCCC1||methylcrotonoyl-CoA carboxylase 1 (alpha)||0.011|
|BCKDHA||branched chain keto acid dehydrogenase E1, alpha polypeptide||0.002|
|DBT||dihydrolipoamide branched chain transacylase E2||0.002|
|PPM1K||protein phosphatase, Mg2+/Mn2+ dependent, 1K||0.001|
|BCKDHB||branched chain keto acid dehydrogenase E1, beta polypeptide||0.001|