Systemic primary carnitine deficiency with hypoglycemic encephalopathy.
Acute hypoglycemia in children is not an uncommon disease that can be encountered in the Emergency Department. Most cases of childhood hypoglycemia are caused by ketotic hypoglycemia due to missed meals. Often, hypoketotic hypoglycemia can also occur, which suggests hyperinsulinemia or a defect in fatty acid oxidation. Carnitine is essential for long chain fatty acids transfer into mitochondria for oxidation. We present a case of systemic primary carnitine deficiency who presented with seizures due to hypoketotic hypoglycemia.
Department of Pediatrics, Fatima Hospital, Daegu, Korea.
Jae Sung
JS
Jun
Department of Pediatrics, Daegu Catholic University Hospital, Daegu Catholic University College of Medicine, Daegu, Korea.
Eun Joo
EJ
Lee
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Seoul, Korea.
Hyung Doo
HD
Park
Department of Pediatrics, Fatima Hospital, Daegu, Korea.
Hae Sook
0000-0001-9578-3957
HS
Kim
Encephalopathy; Hypoglycemia; Systemic carnitine deficiency