Defekt der langkettigen 3-Hydroxy-Acyl-CoA-Dehydrogenase—LCHAD-Defekt View Full Text


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Article Info

DATE

2005-07

AUTHORS

G. C. Korenke, I. Marquardt, R. Motz, A. Voges, R. J. A. Wanders, U. Steuerwald, J. Sander

ABSTRACT

Defizienzen der langkettigen 3-Hydroxy-Acyl-CoA-Dehydrogenase (LCHAD) sind selten. Es treten akut hypoketotische Hypoglykämie mit Hepatopathie und Enzephalopathie, chronisch Myopathie, Kardiomyopathie, Neuropathie und Retinopathie auf. Über 80% der in einer Stoffwechseldekompensation stationär Aufgenommenen sterben vor Vollendung des 2. Lebensjahrs. Durch das erweiterte Neugeborenenscreening können Fettsäureoxidationsdefekte in den ersten Lebenstagen und damit oft präsymptomatisch diagnostiziert werden. Im Screening wurden unter 630.000 Neugeborenen 9 Fälle mit LCHAD-Defekt entdeckt (hohe Inzidenz von 1:30.000 in Nordwestdeutschland). Wir berichten über den klinischen Verlauf während der ersten 2 Lebensjahre von 2 im Neugeborenenscreening diagnostizierten Patienten mit LCHAD-Defekt. Bei beiden konnten das Auftreten krankheitstypischer Symptome nicht verhindert, jedoch eine frühzeitige und gezielte Behandlung eingeleitet werden, sodass beide im Alter von 24 Monaten altersgemäß entwickelt sind. Es ist zu hoffen, dass durch die frühzeitige Diagnosestellung die Prognose von Kindern mit dieser Erkrankung auch im weiteren Verlauf deutlich verbessert wird. More... »

PAGES

657-663

References to SciGraph publications

  • 1995-03. Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1995-09. Common MCAD mutation in a healthy parent of two affected siblings in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2003-05. Accumulation of 3-Hydroxy-Fatty Acids in the Culture Medium of Long-Chain l-3-Hydroxyacyl CoA Dehydrogenase (LCHAD) and Mitochondrial Trifunctional Protein-Deficient Skin Fibroblasts: Implications for Medium Chain Triglyceride Dietary Treatment of LCHAD Deficiency in PEDIATRIC RESEARCH
  • 2003-07. Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1990-05. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acidβ-oxidation in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1988-06. Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation? in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2001-04. Neonatal screening for medium chain acyl-CoA deficiency: high incidence in Lower Saxony (northern Germany) in EUROPEAN JOURNAL OF PEDIATRICS
  • 2000-08. Tandemmassenspektrometrie Beitrag zum Neugeborenenscreening auf angeborene Störungen des Stoffwechsels in MONATSSCHRIFT KINDERHEILKUNDE
  • 2001-12. Erweiterung des Neugeborenenscreenings durch Tandemmassenspektrometrie in MONATSSCHRIFT KINDERHEILKUNDE
  • 2001-04. Effects of arrhythmogenic lipid metabolites on the L-type calcium current of diabetic vs. non-diabetic rat hearts in MOLECULAR AND CELLULAR BIOCHEMISTRY
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00112-003-0864-1

    DOI

    http://dx.doi.org/10.1007/s00112-003-0864-1

    DIMENSIONS

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