Abstract
Biotinidase deficiency presents with clinical signs of biotin deficiency at the age of 3 months, or soon after. In an infant in whom the diagnosis was made on cord blood, vision and hearing were normal before presymptomatic treatment with biotin. Physical and mental development are good at 14 months.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Charles B. M., Hosking G., Green A., Pollitt R., Bartlett K., Taitz L. S. Biotin-responsive alopecia and developmental regression. Lancet. 1979 Jul 21;2(8134):118–120. doi: 10.1016/s0140-6736(79)90003-5. [DOI] [PubMed] [Google Scholar]
- Schubiger G., Caflisch U., Baumgartner R., Suormala T., Bachmann C. Biotinidase deficiency: clinical course and biochemical findings. J Inherit Metab Dis. 1984;7(3):129–130. doi: 10.1007/BF01801771. [DOI] [PubMed] [Google Scholar]
- Taitz L. S., Green A., Strachan I., Bartlett K., Bennet M. Biotinidase deficiency and the eye and ear. Lancet. 1983 Oct 15;2(8355):918–918. doi: 10.1016/s0140-6736(83)90913-3. [DOI] [PubMed] [Google Scholar]
- Wolf B., Grier R. E., Allen R. J., Goodman S. I., Kien C. L., Parker W. D., Howell D. M., Hurst D. L. Phenotypic variation in biotinidase deficiency. J Pediatr. 1983 Aug;103(2):233–237. doi: 10.1016/s0022-3476(83)80351-5. [DOI] [PubMed] [Google Scholar]
- Wolf B., Grier R. E., Parker W. D., Jr, Goodman S. I., Allen R. J. Deficient biotinidase activity in late-onset multiple carboxylase deficiency. N Engl J Med. 1983 Jan 20;308(3):161–161. doi: 10.1056/NEJM198301203080321. [DOI] [PubMed] [Google Scholar]