Carnitine Palmitoyltransferase IA Deficiency (CPT1A)
Carnitine palmitoyltransferase IA deficiency is an autosomal recessive disorder caused by pathogenic variants in the gene CPT1A and is most commonly observed among individuals of Hutterite and Japanese descent. Symptoms commonly present during early childhood and include low blood sugar and ketone levels, an enlarged liver and liver malfunction. Symptoms may be triggered during periods of fasting and by viral illnesses. Although majority of individuals do not experience developmental delays or intellectual disability, they are at risk for nervous system damage, liver failure, seizures, coma, and sudden death. Specific variants have been associated with high residual enzymatic activity and a milder phenotype; therefore, the severity of the disease may be predicted in some patients.
For information about carrier frequency and residual risk, please see the residual risk table.