Primary Carnitine Deficiency and Cardiomyopathy
Korean Circulation Journal
;
: 785-792, 2013.
Article
Dans Anglais
| WPRIM
| ID: wpr-223186
ABSTRACT
Carnitine is essential for the transfer of long-chain fatty acids from the cytosol into mitochondria for subsequent beta-oxidation. A lack of carnitine results in impaired energy production from long-chain fatty acids, especially during periods of fasting or stress. Primary carnitine deficiency (PCD) is an autosomal recessive disorder of mitochondrial beta-oxidation resulting from defective carnitine transport and is one of the rare treatable etiologies of metabolic cardiomyopathies. Patients affected with the disease may present with acute metabolic decompensation during infancy or with severe cardiomyopathy in childhood. Early recognition of the disease and treatment with L-carnitine may be life-saving. In this review article, the pathophysiology, clinical presentation, diagnosis, treatment and prognosis of PCD are discussed, with a focus on cardiac involvements.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pronostic
/
Carnitine
/
Jeûne
/
Cytosol
/
Diagnostic
/
Acides gras
/
Mitochondries
/
Cardiomyopathies
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Humains
langue:
Anglais
Texte intégral:
Korean Circulation Journal
Année:
2013
Type:
Article
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