biotin is a water-soluble vitamin and co-factor for activation of carboxylases apoenzymes. biotinidase enzyme is essential for release of biotin from apoenzymes. absence of biotinidase is an autosomal recessive trait with a prevalence of 1 in 60000. clinical manifestations of biotinidase deficiency include dermatitis, alopecia, seizures, hypotonia, developmental delay, hearing loss, visual impa...


 No evidence was identified regarding the diagnostic test accuracy or clinical utility of copper and ceruloplasmin tests compared to other criteria detect Wilson disease Menkes in children with global development delay intellectual disability that met for this review.
 evidence-based guidelines were found on use developmental

To determine the etiologic yield in young children with developmental delay referred to sub-specialty clinics for evaluation. Over an 18-month period, all children less than 5 years of age referred to the ambulatory pediatric neurology or developmental pediatrics clinics of the Montreal Children's Hospital for initial evaluation of a suspected developmental delay were enrolled. Features evident...