She had a past medical history of obesity with Roux-en-Y gastric bypass surgery six months ago. University of Florida Health at Jacksonville General Medicine, Jacksonville, FLĬopper deficiency is a commonly forgotten cause of anemia and myeloneuropathy, especially in malabsorption cases such as gastric bypass.Ī 37-year-old lady presents to the clinic due to generalized fatigue, weakness, and bilateral foot pain. These results indicated that a considerable number of the patients who had previously been diagnosed as having LCAD deficiency in fact have VLCAD deficiency.1 Recalcitrant iron deficiency anemia and neuropathy as a facade of copper deficiency We performed immunoblot analysis of VLCAD in six “LCAD-deficient” patients VLCAD was negative in three of them, two of whom had a normal LCAD cDNA sequence. Because VLCAD also has high activity with palmitoyl-CoA as substrate, it was possible that defective VLCAD may cause reduced palmitoyl-CoA dehydrogenating activity. Although the LCAD sequence data were puzzling, a new enzyme, very-long-chain acyl-CoA dehydrogenase (VLCAD), was recently identified. The third patient was homozygous for an A to C substitution at 997, although it is unknown whether or not 997-C is a normal polymorphism. In the present study, we amplified via polymerase chain reaction and sequenced LCAD cDNA from three of these LCAD-deficient cell lines, and found perfectly normal LCAD sequences in two of them, indicating that at least these patients were not deficient in LCAD. We previously showed that in immunoblot analysis, an LCAD band of normal size and intensity was detected in fibroblasts from all LCAD-deficient patients tested. Its diagnosis has been made based on the reduced activity of palmitoyl-CoA dehydrogenation, i.e., in fibroblasts. ABSTRACT: Long-chain acyl-CoA dehydrogenase (LCAD) deficiency is a disorder of fatty acid β-oxidation.
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