Definition:
Carnitine transporter deficiency is a hereditary carnitine deficiency, which is a result of defective proteins. These proteins are called carnitine transporters. These transporters are responsible for carrying carnitine to wherever it's needed in the body, and prevents it from being excreted. With the deficiency, carnitine is released through urine. Illness or fasting may trigger severe attack.
Diagnosis:
The deficiency is diagnosed through complete physical examination and laboratory tests. An assessment of precise patient history and symptoms analysis is also done.
Treatment:
The deficiency is usually treated by L-carnitine supplementation after its severity is assessed. Carnitine and avoiding fasting alleviates hypoglycemia occurrences and resolves cardiomegaly in several months' therapy. In a number of cases, high-carbohydrate, low-fat diet has been applied; however, it should not be done alone.
Symptoms and Signs:
There are various symptoms and signs of carnitine transporter deficiency including vomiting, stupor, confusion, muscle weakness, excess urinary carnitine, Hypoglycemia or low blood sugar, Cardiomyopathy or weakly pumping heart, Encephalopathy or abnormalities in brain function, and Rhabdomylysis. There are also risks of serious complications like liver problems, heart failure, coma, and even sudden death.
Causes:
Carnitine transporter deficiency is caused by the damaged ability of carnitine transporters to carry carnitine into cells, thus carnitine escapes the body via the urine.
:
carnitinetransporterdeficiency
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