Maymunah Khries, Albert Lim, Dipayan Mitra, Mark Anderson, Jan Bengtsson, Ann Bowron, Elizabeth Harris, Jessica Blickwedel, Karen Wood, Anna P Basu
Primary carnitine deficiency (PCD) is caused by pathogenic variants of the SLC22A5 gene, which encodes a transmembrane protein that functions as a high affinity carnitine transporter. Carnitine is essential for the transport of acyl-CoA, produced from fatty acids, into the mitochondria where they are oxidised to produce energy. We present the case history of an 8-year-old boy who presented with fever, lethargy, focal rhythmic (3 Hz) left wrist twitching, and severe encephalopathy. MRI brain showed basal ganglia involvement...
2023: Child Neurology Open