Cerebral accumulation of 3-hydroxyisovaleric acid in adults until recently unaware of having 3-Methylcrotonyl-CoA Carboxylase (MCC) deficiency
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چکیده
M. van der Graaf, U. F. Engelke, E. Morava, M. C. Janssen, M. C. de Vries, L. A. Kluijtmans, B. Goraj, A. Heerschap, and R. A. Wevers Radiology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, Clinical Physics Laboratory, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands, General Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
منابع مشابه
Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency.
Aspergillus nidulans is able to use Leu as the sole carbon source through a metabolic pathway leading to acetyl-CoA and acetoacetate that is homologous to that used by humans. mccA and mccB, the genes encoding the subunits of 3-methylcrotonyl-CoA carboxylase, are clustered with ivdA encoding isovaleryl-CoA dehydrogenase, a third gene of the Leu catabolic pathway, on the left arm of chromosome I...
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Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism that appears to be the most frequent organic aciduria detected in tandem mass spectrometry-based neonatal screening programs. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. MCC is a heteromeric m...
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تاریخ انتشار 2009