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Biotin-responsive 3-Methylcrotonylglycinuria with Biotinidase Deficiency

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Inherited Disorders of Vitamins and Cofactors

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Abstract

Functional deficiency of biotin-dependent carboxylases may have two biochemical causes, i.e. either deficiency of the apoenzymes, or deficient synthesis of the holoenzymes, due to defects in holocarboxylase synthase (EC 6.3.4.10) or due to biotin deficiency induced by biotinidase (EC 3.5.1.12) deficiency or malnutrition.

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References

  • Bonjour, J. P. Biotin in man’s nutrition and therapy—a review. Int. J. Vitam. Nutr. Res. 47 (1977) 107–118

    PubMed  CAS  Google Scholar 

  • Heard, G. S., Secor McVoy, J. R. and Wolf, B. A screening method for biotinidase deficiency in newborns. Clin. Chem. 30 (1984) 125–127

    PubMed  CAS  Google Scholar 

  • Knappe, J., Brümmer, W. and Biederbick, K. Reinigung und Eigenschaften der Biotinidase aus Schweinenieren und Lactobacillus Casei. Biochem. Zeitschr. 338 (1963) 599–613

    CAS  Google Scholar 

  • Swick, H. M. and Kien, C. L. Biotin deficiency with neurologic and cutaneous manifestations but without organic aciduria. J. Pediatr. 103 (1983) 265–267

    Article  PubMed  CAS  Google Scholar 

  • Wolf, B., Grier, R. E., Allen, R. J., Goodman, S. I. and Kien, C. L. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. Clin. Chim. Acta 131 (1983a) 273–281

    Article  PubMed  CAS  Google Scholar 

  • Wolf, B., Grier, R. E., Allen, R. J., Goodman, S. I., Kien, C. L., Parker, W. D., Howell, D. M. and Hurst, D. L. Phenotypic variation in biotinidase deficiency. J. Pediatr. 103 (1983b) 233–237

    Google Scholar 

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Authors and Affiliations

  1. Department of Clinical Chemistry, Gothenburg University, Sahlgrens Hospital, S-413 45, Gothenburg, Sweden

    J. Greter, E. Holme & S. Lindstedt

  2. Department of Pediatrics, University of Tampere, Central Hospital, SF-33520, Tampere 52, Finland

    M. Koivikko

Authors
  1. J. Greter
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  2. E. Holme
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  3. S. Lindstedt
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  4. M. Koivikko
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Editor information

G. M. Addison K. Bartlett R. A. Harkness R. J. Pollitt

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© 1985 SSIEM and MTP Press Limited

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Greter, J., Holme, E., Lindstedt, S., Koivikko, M. (1985). Biotin-responsive 3-Methylcrotonylglycinuria with Biotinidase Deficiency. In: Addison, G.M., Bartlett, K., Harkness, R.A., Pollitt, R.J. (eds) Inherited Disorders of Vitamins and Cofactors. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-8019-1_23

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  • DOI: https://doi.org/10.1007/978-94-011-8019-1_23

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-011-8021-4

  • Online ISBN: 978-94-011-8019-1

  • eBook Packages: Springer Book Archive

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