NCIt related terms : Renal Carnitine Transport Defect; Carnitine Deficiency;
NCIt definition : 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.;