Primary carnitine deficiency
An autosomal recessive inherited disorder caused by mutations in the SLC22A5 gene. It is characterized by the presence of a defective protein called OCTN2 which is involved in the transportation of carnitine into the cells. This abnormality results in reduced energy production and accumulation of fatty acids in the tissues. Clinical manifestations of confusion, muscle weakness, hypoglycemia, encephalopathy and cardiomyopathy may be exacerbated during fasting.
Disease Alternative Name
renal carnitine transport defect
carnitine uptake deficiency
carnitine deficiency
carnitine transporter deficiency
systemic primary carnitine deficiency
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Srinagar
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Department of Pediatrics Government Medical College Srinagar
Post Graduate Scholar
Govermnent Medical College Srinagar
MD PEDIATRICS
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