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

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Chemical Compound Review:

AG-K-76261 2-(3-methylbut-2- enoylamino)ethanoic acid

Synonyms: CHEBI:68499, HMDB00459, CTK8E4486, AR-1J8615, AKOS009281165, ...

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Disease relevance of beta-Methylcrotonylglycine

The third child, who presented with a periorificial candida dermatitis, alopecia, keratoconjunctivitis, and intermittent ataxia at eighteen months of age, had intermittent lactic acidosis and raised excretion of beta-hydroxyproprionate, methylcitrate, beta-methylcrotonylglycine, and beta-hydroxyisovalerate in urine [1].
A child with a history of episodes of metabolic acidosis was found to excrete 3-hydroxyisovaleric acid and 3-methylcrotonylglycine [2].
Laboratory examinations showed hyperglycemia, hyperammonemia, lactic acidosis, and excretion of large amounts of beta-hydroxyisovalerate and beta-methylcrotonylglycine in the urine [3].

High impact information on beta-Methylcrotonylglycine

Ten of these 20 infants had significant concentrations of both 3-hydroxyisovaleric acid and 3-methylcrotonylglycine in their urine, suggestive of 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency [4].
MCC deficiency was suspected at 3 months of age on the basis of mildly elevated urinary excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine and confirmed by enzyme analysis in lymphocyte and fibroblast homogenates [5].

References

Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity. Cowan, M.J., Wara, D.W., Packman, S., Ammann, A.J., Yoshino, M., Sweetman, L., Nyhan, W. Lancet (1979) [Pubmed]
A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria. Bartlett, K., Ng, H., Leonard, J.V. Clin. Chim. Acta (1980) [Pubmed]
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation. Hwu, W.L., Suzuki, Y., Yang, X., Li, X., Chou, S.P., Narisawa, K., Tsai, W.Y. J. Formos. Med. Assoc. (2000) [Pubmed]
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. Koeberl, D.D., Millington, D.S., Smith, W.E., Weavil, S.D., Muenzer, J., McCandless, S.E., Kishnani, P.S., McDonald, M.T., Chaing, S., Boney, A., Moore, E., Frazier, D.M. J. Inherit. Metab. Dis. (2003) [Pubmed]
Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure. Wiesmann, U.N., Suormala, T., Pfenninger, J., Baumgartner, E.R. Eur. J. Pediatr. (1998) [Pubmed]

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