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

Publication ,  Journal Article
Gibson, KM; Burlingame, TG; Hogema, B; Jakobs, C; Schutgens, RB; Millington, D; Roe, CR; Roe, DS; Sweetman, L; Steiner, RD; Linck, L; Sacks, M ...
Published in: Pediatr Res
June 2000

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.

Duke Scholars

Published In

Pediatr Res

DOI

ISSN

0031-3998

Publication Date

June 2000

Volume

47

Issue

6

Start / End Page

830 / 833

Location

United States

Related Subject Headings

  • Prenatal Diagnosis
  • Pregnancy
  • Pediatrics
  • Oxidoreductases Acting on CH-CH Group Donors
  • Oxidoreductases
  • Male
  • Isoleucine
  • Infant
  • Humans
  • Female
 

Citation

APA
Chicago
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MLA
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Gibson, K. M., Burlingame, T. G., Hogema, B., Jakobs, C., Schutgens, R. B., Millington, D., … Vockley, J. (2000). 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res, 47(6), 830–833. https://doi.org/10.1203/00006450-200006000-00025
Gibson, K. M., T. G. Burlingame, B. Hogema, C. Jakobs, R. B. Schutgens, D. Millington, C. R. Roe, et al. “2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.Pediatr Res 47, no. 6 (June 2000): 830–33. https://doi.org/10.1203/00006450-200006000-00025.
Gibson KM, Burlingame TG, Hogema B, Jakobs C, Schutgens RB, Millington D, et al. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res. 2000 Jun;47(6):830–3.
Gibson, K. M., et al. “2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.Pediatr Res, vol. 47, no. 6, June 2000, pp. 830–33. Pubmed, doi:10.1203/00006450-200006000-00025.
Gibson KM, Burlingame TG, Hogema B, Jakobs C, Schutgens RB, Millington D, Roe CR, Roe DS, Sweetman L, Steiner RD, Linck L, Pohowalla P, Sacks M, Kiss D, Rinaldo P, Vockley J. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res. 2000 Jun;47(6):830–833.

Published In

Pediatr Res

DOI

ISSN

0031-3998

Publication Date

June 2000

Volume

47

Issue

6

Start / End Page

830 / 833

Location

United States

Related Subject Headings

  • Prenatal Diagnosis
  • Pregnancy
  • Pediatrics
  • Oxidoreductases Acting on CH-CH Group Donors
  • Oxidoreductases
  • Male
  • Isoleucine
  • Infant
  • Humans
  • Female