Ontology highlight
ABSTRACT:
SUBMITTER: Ivin N
PROVIDER: S-EPMC7238476 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Journal of the Intensive Care Society 20191218 2
Carnitine palmitoyltransferase 2 deficiency is an inherited metabolic disorder involving a deficiency in a mitochondrial enzyme necessary for long chain fatty acid oxidation, and therefore decreased utilisation of fatty acids. The adult form of this condition leads to recurrent rhabdomyolysis triggered by exercise, fasting and infection. It is a very rare condition with only a few hundred reported cases worldwide. Here we present a case of severe rhabdomyolysis in the context of carnitine palmit ...[more]