Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)

LCHADD is a long-fatty acid oxidation disorder with immediate symptoms and long-term complications. We evaluated data on clinical status, biochemical parameters, therapeutic regimens and outcome of Austrian LCHADD patients. Clinical and outcome data including history, diagnosis, short- and long-term...

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Veröffentlicht in:	Orphanet journal of rare diseases 2015-02, Vol.10 (1), p.21-21, Article 21
Hauptverfasser:	Karall, Daniela, Brunner-Krainz, Michaela, Kogelnig, Katharina, Konstantopoulou, Vassiliki, Maier, Esther M, Möslinger, Dorothea, Plecko, Barbara, Sperl, Wolfgang, Volkmar, Barbara, Scholl-Bürgi, Sabine
Format:	Artikel
Sprache:	eng
Schlagworte:	3-Hydroxyacyl CoA Dehydrogenases - deficiency Adolescent Cardiomyopathies - diet therapy Cardiomyopathies - pathology Child Child, Preschool Enteral Nutrition Fatty Acids - administration & dosage Fatty Acids - therapeutic use Female Humans Infant Intubation, Gastrointestinal Lipid Metabolism, Inborn Errors - diet therapy Lipid Metabolism, Inborn Errors - pathology Male Mitochondrial Myopathies - diet therapy Mitochondrial Myopathies - pathology Mitochondrial Trifunctional Protein - deficiency Nervous System Diseases - diet therapy Nervous System Diseases - pathology Retrospective Studies Rhabdomyolysis - diet therapy Rhabdomyolysis - pathology Treatment Outcome
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