EP031: Clinical and biochemical characterization of carnitine palmitoyltransferase-2 deficiency and novel case exacerbated by heterozygosity with partial carnitine transporter deficiency

Abstract

Carnitine palmitoyltransferase 2 (CPT-2) deficiency is a disorder of the carnitine cycle that impairs long-chain fatty-acid oxidation. It can present at birth with a lethal neonatal form, in infancy/childhood with an infantile hepatocardiomuscular form, and later in life with a myopathic form. Patients with the lethal neonatal form have null pathogenic variants in the CPT2 gene that result in the complete absence of enzyme activity. By contrast, patients with the other forms have at least one copy of a less impactful variant allowing for some residual enzyme activity.