Clinicians and biologists from Bordeaux report the observation of a four and a half month old child who presented a severe metabolic decompensation.
- The clinical picture was characterized by severe hypotonia, digestive disorders (diarrhoea, vomiting), and a first cardiac arrest in a context of profound hypoglycaemia.
- The metabolic assessment quickly revealed a primary carnitine deficiency (PCD) and the genetic study confirmed the presence of mutations in the SLC22A5 gene encoding the OCTN2 protein.
- Despite emergency carnitine supplementation, she suffered a second, fatal cardiac arrest four days after admission.
This observation illustrates the need for early detection and treatment of such carnitine deficiencies.
Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation. Louis L, Margaux G, Claire G et al. JIMD Rep. 2022 Nov 9;64(1):35-41.