Carnitine palmitoyltransferase-1A deficiency: a look at classic and arctic variants.
Carnitine palmitoyltransferase-1A (CPT-1A) deficiency is a defect of fatty acid metabolism that presents as an autosomal recessive inheritance. Carnitine palmitoyltransferase-1A is the rate-limiting enzyme that allows the body to process fats to provide energy during times of fasting and illness. Patients usually present between birth and 18 months of age following an illness with various symptoms including hypoketotic hypoglycemia, lethargy, and seizures. Diagnosis can be achieved through newborn metabolic screening. Long-term treatment is managed through dietary management. A milder form has been found to occur at a much higher incidence in the Inuit population. Since the recent discovery of CPT-1A deficiency, much is yet to be learned. Researchers are busy identifying and studying groups of people who are presenting with CPT-1A deficiency at significantly higher rates than the general population. This research will lead to a better understanding and future care of individuals diagnosed with CPT-1A deficiency.
Children's Hospital Colarado, Aurora, Colorado 80045, USA. deanna.dykema@childrenscolorado.org
Deanna M
DM
Dykema
D000413:Alaska; D001110:Arctic Regions; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D007003:Hypoglycemia / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D007223:Infant; D007231:Infant, Newborn; D004930:Inuit; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D015997:Neonatal Screening; D011296:Prenatal Diagnosis; D011379:Prognosis
D002334:Carnitine O-Palmitoyltransferase