The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

@article{Gallardo2001TheMB,
  title={The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.},
  author={M. E. Gallardo and L. Desviat and J. Rodr{\'i}guez and J. Esparza-Gordillo and C. P{\'e}rez-Cerd{\'a} and B. P{\'e}rez and P. Rodr{\'i}guez-Pombo and O. Criado and R. Sanz and D. Morton and K. M. Gibson and T. P. Le and A. Ribes and S. D. de C{\'o}rdoba and M. Ugarte and M. Pe{\~n}alva},
  journal={American journal of human genetics},
  year={2001},
  volume={68 2},
  pages={
          334-46
        }
}
3-Methylcrotonylglycinuria is an inborn error of leucine catabolism and has a recessive pattern of inheritance that results from the deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). The introduction of tandem mass spectrometry in newborn screening has revealed an unexpectedly high incidence of this disorder, which, in certain areas, appears to be the most frequent organic aciduria. MCC, an heteromeric enzyme consisting of alpha (biotin-containing) and beta subunits, is the only one of the… Expand
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