📂 Diseases
systemic primary carnitine deficiency — Definition
Sistemik primer karnitin eksikliği / systemic primary carnitine deficiency
The lack of primary carnitine system is an autozomal resessive metabolic disease caused by a genetic disorder in the OCTN2 carrier protein, which allows the body to carry the stomach into the cell. This situation leads to insufficient in energy production by blocking the transportation of oil acids to mitochondria. Clinically manifests itself with symptoms such as hypoglycemia, cardiomyopathy, muscle weakness and hepatomegaly in infants. If it is not treated with early diagnosis and oral carnitine supplement, it can cause severe cardiac and metabolic complications.
Frequently Asked Questions
❓ What is Sistemik primer karnitin eksikliği?
Sistemik primer karnitin eksikliği; the lack of primary carnitine system is an autozomal resessive metabolic disease caused by a genetic disorder in the OCTN2 carrier protein, which allows the body to carry the stomach into the cell. This situation leads to insufficient in energy production by blocking the transportation of oil acids to mitochondria. Clinically manifests itself with symptoms such as hypoglycemia, cardiomyopathy, muscle weakness and hepatomegaly in infants. If it is not treated with early diagnosis and oral carnitine supplement, it can cause severe cardiac and metabolic complications.
❓ What is systemic primary carnitine deficiency in Turkish?
The Turkish equivalent of "systemic primary carnitine deficiency" is Sistemik primer karnitin eksikliği.
❓ Which medical field is Sistemik primer karnitin eksikliği related to?
This term belongs to the Diseases category.