[Biotinidase deficiency--a progressive metabolic disease in children with seizures and ataxia].
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.
Anger
H
H
Institut für Medizinische Genetik, Bereiches Medizin (Charité) der Humboldt-Universität zu Berlin.
Lorenz
K
K
Cobet
G
G
D000581:Amidohydrolases / Q000172:deficiency*; D043523:Biotinidase; D001925:Brain Damage, Chronic / Q000235:genetics*; D001928:Brain Diseases, Metabolic / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D009100:Multiple Carboxylase Deficiency / Q000235:genetics*; D013036:Spasms, Infantile / Q000235:genetics*
D000581:Amidohydrolases; D043523:Biotinidase
Der Biotinidasemangel--Eine progrediente Stoffwechselerkrankung des Kindesalter mit Krampfanfällen und Ataxie.