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MeSH Review:

Holocarboxylase Synthetase Deficiency

Mardach, R. et al., Santer, R. et al., Sherwood, W.G. et al., Livne, M. et al., Holme, E. et al.

Santer, Muhle, Suormala, Baumgartner, Duran, Yang, Aoki, Suzuki, Stephani,

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Disease relevance of Holocarboxylase Synthetase Deficiency

Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset [1].

High impact information on Holocarboxylase Synthetase Deficiency

Activities of biotin-dependent carboxylases in PBMCs and cultured skin fibroblasts were normal, excluding biotin holocarboxylase synthetase deficiency [2].
Holocarboxylase synthetase deficiency was diagnosed, and biotin and carnitine were administered [3].
Biotinidase deficiency and holocarboxylase-synthetase deficiency have been excluded [4].

Biological context of Holocarboxylase Synthetase Deficiency

Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects [5].

References

Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. Sherwood, W.G., Saunders, M., Robinson, B.H., Brewster, T., Gravel, R.A. J. Pediatr. (1982) [Pubmed]
Biotin dependency due to a defect in biotin transport. Mardach, R., Zempleni, J., Wolf, B., Cannon, M.J., Jennings, M.L., Cress, S., Boylan, J., Roth, S., Cederbaum, S., Mock, D.M. J. Clin. Invest. (2002) [Pubmed]
Holocarboxylase synthetase deficiency: a treatable metabolic disorder masquerading as cerebral palsy. Livne, M., Gibson, K.M., Amir, N., Eshel, G., Elpeleg, O.N. J. Child Neurol. (1994) [Pubmed]
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities. Holme, E., Jacobson, C.E., Kristiansson, B. J. Inherit. Metab. Dis. (1988) [Pubmed]
Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects. Santer, R., Muhle, H., Suormala, T., Baumgartner, E.R., Duran, M., Yang, X., Aoki, Y., Suzuki, Y., Stephani, U. Mol. Genet. Metab. (2003) [Pubmed]

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