Incidence of biotin deficiency in preschool children with global developmental delay

What is it about?

This review was written to address an important question: In preschool children with global developmental delay [patients], is the prevalence of biotinidase deficiency [outcome] higher than in the general population?

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Why is it important?

Biotinidase deficiency (BTD) is an autosomal recessive inherited disorder that manifests during childhood with various cutaneous and neurological symptoms including dermatitis, hair loss, seizures, hypotonia, developmental delay, ataxia, mental retardation, hearing and visual loss, lactic acidosis, organic aciduria and fetal malformations. BTD is easily treated with biotin supplementation with reversal of most symptoms if commenced early.

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