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| C. Neto,E.; Schulte,J.; Rubim,R.; Lewis,E.; DeMari,J.; Castilhos,C.; Brites,A.; Giugliani,R.; Jensen,K.P.; Wolf,B.. |
| Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using dried blood-soaked filter paper cards, biotinidase activity was determined in the sera of 225,136 newborns in Brazil. Mutation analysis performed on DNA from 21 babies with low serum biotinidase activity confirmed that 3 had profound biotinidase deficiency (less than 10% of mean normal sera biotinidase activity), 10 had partial biotinidase deficiency (10 to 30% of mean normal serum activity), 1 was homozygous for partial biotinidase deficiency, 4 were heterozygous for either profound or partial deficiency, and 3 were normal. Variability... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Newborn screening; Biotinidase deficiency; Biotinidase; Mutations; Enzyme assay. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004000300001 |
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