A Case of Carnitine Palmitoyltransferase II Deficiency in Bahrain With a Novel Mutation.

ABSTRACT: Carnitine palmitoyltransferase II (CPT II) deficiency is a rare genetic metabolic disorder. Three forms of the disease have been described: the lethal neonatal form, the severe infantile hepatocardiomuscular form, and the myopathic form. We report a case of the infantile form of CPT II deficiency with a novel mutation. Our patient is a seven-year-old Bahraini male who was investigated by the pediatric metabolic team following the sudden death of his twin sister in infancy. A fatty acid metabolic disorder was suspected based on his echocardiogram and tandem mass spectrometry (TMS) findings. Genetic analysis was initially inconclusive. Nonetheless, he was started on a fat-free diet, L-carnitine, and medium-chain triglycerides (MCT). At nearly two years of age, the patient had a metabolic cri

SUBMITTER: Alsahlawi Z 

PROVIDER: S-EPMC9288837 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature