Carnitineuptake+defect+in+virginia+newborn+screening

Carnintineuptake defect(which is also known as) is an inherited disorder which causes a reduced amount of carintine transportation into cells. Carnitine helps turn unwanted fats located within cells into enegy. however with this defect the fats dont get processed in your cells and the fats will not be converted into needed energy. signs of this disorder usally occur during infancy or early childhood. These symptoms are confusionm, vomiting, musle weakness and hypoglycemia. Carnitine uptake defect is caused by mutations in the SLC22A5 gene; it has an autosomal recessive pattern of inheritance. The abbreviation for this disease is named CUD. The severity varies among many people and in increases the risk for heart failure, liver problems, coma, and sudden death. The gene that is responsible for this condition is SLC22A5 and a protein called OCTN2. the commoness of this disease is that 1 in every 100,000 births have it and in Japan that number is 1 in every 40,000(dont ask me why...). problems related to this can be caused by not eating or viral infections. This disease like all kinds of other ones can be found and treated early via screening your newborn babies

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