Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Aim Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is a severe metabolic disease that, without treatment, often leads to premature death or serious handicap. The aim of this study was to evaluate the clinical course of LCHADD with the homozygous 1528G>C (E510Q) mutation when patie...

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Veröffentlicht in:	Acta Paediatrica 2016-05, Vol.105 (5), p.549-554
Hauptverfasser:	Immonen, Tuuli, Turanlahti, Maila, Paganus, Aila, Keskinen, Päivi, Tyni, Tiina, Lapatto, Risto
Format:	Artikel
Sprache:	eng
Schlagworte:	Cardiomyopathies - diagnosis Cardiomyopathies - diet therapy Cardiomyopathies - mortality Cardiomyopathy Child Child, Preschool Dehydrogenases Early Diagnosis Female Finland Follow-Up Studies Humans Infant Lipid Metabolism, Inborn Errors - diagnosis Lipid Metabolism, Inborn Errors - diet therapy Lipid Metabolism, Inborn Errors - mortality Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Male Metabolic disorders Mitochondrial Myopathies - diagnosis Mitochondrial Myopathies - diet therapy Mitochondrial Myopathies - mortality Mitochondrial Trifunctional Protein - deficiency Nervous System Diseases - diagnosis Nervous System Diseases - diet therapy Nervous System Diseases - mortality Neuropathy Newborn screening Prospective Studies Retinopathy Retrospective Studies Rhabdomyolysis - diagnosis Rhabdomyolysis - diet therapy Rhabdomyolysis - mortality Survival Rate Treatment Outcome
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