Psychiatrie, Neurologie, und medizinische Psychologie 1990-Mar
[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia].
Only registered users can translate articles
Log In/Sign up
The link is saved to the clipboard
Keywords
Abstract
Biotinidase deficiency is the primary biochemical defect in late-onset multiple carboxylase deficiency and an autosomal recessive disorder and characterized by seizures, ataxia, alopecia and skin rash. We describe a colorimetric semiquantitative method for screening for biotinidase activity from dried samples of whole blood spotted on filter papers. The administration of biotin to affected children can be a lifesaving procedure and can prevent irreversible neurologic damage.