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

Abstract 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...

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Detalhes bibliográficos

Principais autores:	Lebreton Louis, Gaschignard Margaux, Guibet Claire, Lamireau Delphine, Roche Sandrine, Richard Emmanuel, Ged Cécile, Mesli Samir, Redonnet‐Vernhet Isabelle
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2023-01-01
coleção:	JIMD Reports
Assuntos:	cardiomyopathy children fatty oxidation primary carnitine deficiency
Acesso em linha:	https://doi.org/10.1002/jmd2.12346
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