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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.

An 4-mo-old male was found to have an isolated increase in 2-methylbutyrylglycine (2-MBG) and 2-methylbutyrylcamitine (2-MBC) in physiologic fluids. In vitro oxidation studies in cultured fibroblasts using 13C- and 14C-labeled branched chain amino acids indicated an isolated block in 2-methylbutyryl-CoA dehydrogenase (2-MBCDase). Western blotting revealed absence of 2-MBCDase protein in fibroblast extracts; DNA sequencing identified a single 778 C>T substitution in the 2-MBCDase coding region (778 C>T), substituting phenylalanine for leucine at amino acid 222 (L222F) and absence of enzyme activity for the 2-MBCDase protein expressed in Escherichia coli. Prenatal diagnosis in a subsequent pregnancy suggested an affected female fetus, supporting an autosomal recessive mode of inheritance. These data confirm the first documented case of isolated 2-MBCDase deficiency in humans.[1]

References

  1. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Gibson, K.M., Burlingame, T.G., Hogema, B., Jakobs, C., Schutgens, R.B., Millington, D., Roe, C.R., Roe, D.S., Sweetman, L., Steiner, R.D., Linck, L., Pohowalla, P., Sacks, M., Kiss, D., Rinaldo, P., Vockley, J. Pediatr. Res. (2000) [Pubmed]
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