📂 Diseases
lipoic acid synthetase deficiency — Definition
Lipoik asit sentetaz eksikliği / lipoic acid synthetase deficiency
Mitokondriyal enzyme is a rare metabolic disease with autozomal resessive transition, which occurs as a result of the failure of lipoic acid centetase. Since there is a cophanector of important enzyme complexes such as Lipoic acid, piruvat dehydrogenase and alpha-ketoglutarat dehydrogenase, deficiency leads to degradation in energy metabolism. Clinical findings include early starting seizures, hypotonia, development backrest, lactic acidosis and respiratory shortage. Diagnosis is subject with genetic tests and enzyme activity measurement, treatment is symptomatic and supporting.
Frequently Asked Questions
❓ What is Lipoik asit sentetaz eksikliği?
Lipoik asit sentetaz eksikliği; mitokondriyal enzyme is a rare metabolic disease with autozomal resessive transition, which occurs as a result of the failure of lipoic acid centetase. Since there is a cophanector of important enzyme complexes such as Lipoic acid, piruvat dehydrogenase and alpha-ketoglutarat dehydrogenase, deficiency leads to degradation in energy metabolism. Clinical findings include early starting seizures, hypotonia, development backrest, lactic acidosis and respiratory shortage. Diagnosis is subject with genetic tests and enzyme activity measurement, treatment is symptomatic and supporting.
❓ What is lipoic acid synthetase deficiency in Turkish?
The Turkish equivalent of "lipoic acid synthetase deficiency" is Lipoik asit sentetaz eksikliği.
❓ Which medical field is Lipoik asit sentetaz eksikliği related to?
This term belongs to the Diseases category.