Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation

Primary carnitine deficiency (PCD) is an inherited disease of fatty acid beta‐oxidation with autosomal recessive inheritance. The disease manifests as metabolic decompensation with hypoketotic hypoglycaemia associated with cardiomyopathy, hepatomegaly, rhabdomyolysis, and seizures. Various outcomes...

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Detalles Bibliográficos
Autores principales: Louis, Lebreton, Margaux, Gaschignard, Claire, Guibet, Delphine, Lamireau, Sandrine, Roche, Emmanuel, Richard, Cécile, Ged, Samir, Mesli, Isabelle, Redonnet‐Vernhet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830015/
https://www.ncbi.nlm.nih.gov/pubmed/36636599
http://dx.doi.org/10.1002/jmd2.12346

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830015/
https://www.ncbi.nlm.nih.gov/pubmed/36636599
http://dx.doi.org/10.1002/jmd2.12346

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