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.
Perspectives
Although the number of children with possible LD/GDD who need to be tested in order to diagnose one case of BTD may seem high (3500), this investigation would seem to be cost-effective, considering the potentially very serious life-time disabilities that may result if BTD is not identified.
Dr Michael O Ogundele
Mid Cheshire Hospitals NHS Foundation Trust Postgraduate Medical Centre
Read the Original
This page is a summary of: Question 2 What is the incidence of biotin deficiency in preschool children with global developmental delay?, Archives of Disease in Childhood, August 2011, BMJ,
DOI: 10.1136/archdischild-2011-300411.
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