Biochemical and immunologic characterization of serum biotinidase in partial biotinidase deficiency.

Abstract excerpt

Newborn screening for biotinidase deficiency has identified children with profound biotinidase deficiency (less than 10% of mean normal activity) and about an equal number of children with partial biotinidase deficiency (10 to 30% of mean normal activity). Partial biotinidase deficiency was initially considered a variant without clinical consequences until one child, during an episode of gastroenteritis,...

Topics

• Adult
• Amidohydrolases
• Biotinidase
• Cross Reactions
• Female
• Humans
• Immunochemistry
• Infant, Newborn
• Isoelectric Focusing
• Kinetics
• Male
• Phenotype