[Very-long-chain acyl-CoA dehydrogenase deficiency].
نویسندگان
چکیده
منابع مشابه
Mitochondrial very long chain acyl-CoA dehydrogenase deficiency--a new disorder of fatty acid oxidation.
Very long chain acyl-CoA dehydrogenase is a newly characterised enzyme in mitochondrial fatty acid oxidation. A girl who presented on the second day of life with a sudden and severe illness due to deficiency of this enzyme is reported. There is evidence that some children (and perhaps all) originally diagnosed with a deficiency of long-chain acyl-CoA dehydrogenase, in fact, have a defect involv...
متن کاملSuccessful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Very-long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a rare and life-threatening disease characterized by an enzymatic defect in the fatty acid β-oxidation pathway. A nulliparous woman with VLCADD showed improvements in serum levels of the long-chain acylcarnitine moiety (C14:1) during pregnancy and successfully delivered a healthy infant vaginally. Pregnancy and vaginal deliver...
متن کاملTissue-Specific Strategies of the Very-Long Chain Acyl-CoA Dehydrogenase-Deficient (VLCAD−/−) Mouse to Compensate a Defective Fatty Acid β-Oxidation
Very long-chain acyl-CoA dehydrogenase (VLCAD)-deficiency is the most common long-chain fatty acid oxidation disorder presenting with heterogeneous phenotypes. Similar to many patients with VLCADD, VLCAD-deficient mice (VLCAD(-/-)) remain asymptomatic over a long period of time. In order to identify the involved compensatory mechanisms, wild-type and VLCAD(-/-) mice were fed one year either wit...
متن کاملVery long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure.
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a key enzyme catalysing the dehydrogenation of long-chain fatty acids in mitochondrial beta-oxidation. VLCAD deficiency is a genetic disorder that commonly presents in infancy or childhood with episodes of hypoketotic hypoglycaemia, cardiomyopathy and liver dysfunction. The present study reports an 18-yr-old Chinese female who present...
متن کاملRhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency
Very long chain acyl CoA dehydrogenase deficiency (VLCADD) is an inborn error in long chain fatty acid oxidation with significant variability in the severity and timing of its clinical presentation. Neonatal presentations of VLCADD have included hypoglycemia and cardiomyopathy while rhabdomyolysis is usually a later onset complication. We describe a neonate with VLCADD presenting with rhabdomyo...
متن کاملA severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency.
A patient with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is reported. He had a severe neonatal presentation and cardiomyopathy. He was found to be homozygous for a severe mutation with no residual enzyme activity. Tandem mass spectrometry on dried blood spots revealed increased long chain acylcarnitines. VLCAD enzyme activity was severely decreased to 2% of control levels. Dieta...
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ورودعنوان ژورنال:
- Nihon rinsho. Japanese journal of clinical medicine
دوره 60 Suppl 4 شماره
صفحات -
تاریخ انتشار 2001