branched-chain keto acid dehydrogenase kinase deficiency — Definition

Dallı zincirli keto asit dehidrogenaz kinaz eksikliği; a rare metabolic disease that occurs as a result of the deficiency of keto acid dehydrogenase kinasis enzyme with branch chain. This enzyme plays a critical regulatory role in the destruction of branch chain amino acids (lösin, isolösin, valin). In the case of deficiency, these amino acids and toxic side products can lead to neurological damage, development retardation and metabolic crisis. The disease shows symptoms similar to the maple syrup urine disease, but it can be lighter looking.

The Turkish equivalent of "branched-chain keto acid dehydrogenase kinase deficiency" is Dallı zincirli keto asit dehidrogenaz kinaz eksikliği.

This term belongs to the Diseases category.