Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood

A child presented in early childhood with episodes of coma and hypoglycemia and a rapidly evolutive myopathy and cardiomyopathy leading to death at 9 mo of age. Ketosis was decreased (blood beta-hydroxybutyrate: 0.07 mmol/L) despite normal plasma levels of fatty acids (0.81 mmol/L). The patient'...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Pediatric research 1990-12, Vol.28 (6), p.657-662
Hauptverfasser:	Rocchiccioli, F, Wanders, R J, Aubourg, P, Vianey-Liaud, C, Ijlst, L, Fabre, M, Cartier, N, Bougneres, P F
Format:	Artikel
Sprache:	eng
Schlagworte:	Acyl-CoA Dehydrogenase, Long-Chain - deficiency Cardiomyopathies - etiology Cardiomyopathies - metabolism Female Humans Hypoglycemia - etiology Hypoglycemia - metabolism Infant Lipid Metabolism Liver - ultrastructure Muscles - ultrastructure Muscular Diseases - etiology Muscular Diseases - metabolism Muscular Diseases - pathology
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!