Abstract
The biotin responsive late-onset multiple carboxylase deficiency (McKusick 25327) has recently been shown to be due to biotinidase deficiency (EC 3.5.1.12; Wolfet al., 1983a). This affects the regeneration of biotin from biocytin so that biotin is not available for the mitochondrial carboxylases. In consequence the metabolism of propionylcoenzyme A, 3-methylcrotonylcoenzyme A and pyruvate is hampered. Symptoms which are considered to be characteristic of this condition are muscular hypotonia, ataxia, seizures, alopecia and seborrhoeic dermatitis. We report a case who presented only with exanthema and seizures during an acute febrile illness.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bachmann, C., Colombo, J. P. and Berueter, J. Short chain fatty acids in plasma and brain: quantitative determination by gas chromatography.Clin. Chim. Acta 92 (1979) 153–159
Bachmann, C., Buehlmann, R. and Colombo, J. P. Organic acids in urine: sample preparation for gas chromatography-mass spectrometry.J. Inher. Metab. Dis. 7 Suppl. 2 (1984) 126
Baumgartner, R., Suormala, T., Wick, H., Bachmann, C. and Jaggi, J. K. Biotin dependency causing multiple carboxylase deficiencyin vivo.Pediatr. Res. 15 (1981) 1189 (Abstract)
Baumgartner, R., Suormala, T., Wick, H. and Bonjour, J. P. Biotin-responsive multiple carboxylase deficiency: deficient biotinidase activity associated with renal loss of biotin?J. Inher. Metab. Dis. 7 Suppl. 2 (1984) 123–125
Frigg, M. and Brubacher, G. Biotin deficiency in chicks fed a wheat-based diet.Int. J. Nutr. Res. 46 (1976) 314–321
Knappe, J., Brümmer, W. and Biederbick, K. Reinigung und Eigenschaften der Biotinidase aus Schweineniere und Lactobacillus casei.Biochem. Zschr. 338 (1963) 591–613
Wolf, B., Grier, R. E., Parker, W. D., Goodman, S. J. and Allen, R. J. Deficient biotinidase activity in late onset multiple carboxylase deficiency.N. Engl. J. Med. 308 (1983a) 161
Wolf, B., Grier, R. E., Allen, R. J., Goodman, S. J., Kien, C. L., Parker, W. D., Howell, D. M. and Hurst, D. L. Phenotypic variation in biotinidase deficiency.J. Pediatr. 103 (1983b) 233–237
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Schubiger, G., Caflisch, U., Baumgartner, R. et al. Biotinidase deficiency: Clinical course and biochemical findings. J Inherit Metab Dis 7, 129–130 (1984). https://doi.org/10.1007/BF01801771
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01801771