📂 Diseases
fumarase deficiency — Definition
Fumaraz eksikliği / fumarase deficiency
Fumaraz deficiency is a rare autozomal resessive metabolic disease that occurs as a result of the deficiency of fumarat hydratease enzyme. This lack of enzyme disrupts the energy production by blocking fumarate’s trophy conversion in the tricarboxylic acid cycle. The disease typically manifests itself with severe neurological findings, hypotonia, seizures and development backrest in the newborn period. Fumaric acid breakthrough in urine in laboratory findings and brain anomalies (such as pmikrogiri).
Frequently Asked Questions
❓ What is Fumaraz eksikliği?
Fumaraz eksikliği; fumaraz deficiency is a rare autozomal resessive metabolic disease that occurs as a result of the deficiency of fumarat hydratease enzyme. This lack of enzyme disrupts the energy production by blocking fumarate’s trophy conversion in the tricarboxylic acid cycle. The disease typically manifests itself with severe neurological findings, hypotonia, seizures and development backrest in the newborn period. Fumaric acid breakthrough in urine in laboratory findings and brain anomalies (such as pmikrogiri).
❓ What is fumarase deficiency in Turkish?
The Turkish equivalent of "fumarase deficiency" is Fumaraz eksikliği.
❓ Which medical field is Fumaraz eksikliği related to?
This term belongs to the Diseases category.