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.
Keywords
- Pyruvate Carboxylase
- Organic Aciduria
- Biotinidase Deficiency
- Irreversible Brain Damage
- Activity Pyruvate Carboxylase
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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
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