Outcome in patients with profound biotinidase deficiency: relevance of newborn screening

Developmental Medicine and Child Neurology
Peter WeberE R Baumgartner

Abstract

Profound biotinidase deficiency (PBD) is an autosomal recessively inherited disorder of biotin metabolism, which can be detected by newborn screening and treated with biotin supplementation. Children were investigated in whom PBD was detected by newborn screening and who were treated presymptomatically, or who were not screened but were diagnosed and treated after experiencing initial clinical symptoms (symptomatic children). In a follow-up of our study group, differences in development, social and behavioural adaptation, and signs of residual impairment were examined. Parents and physicians of children with PBD completed questionnaires which included the Child Behavior Checklist and Vineland Adaptive Behavior Scales. Information was obtained for 37 children (24 males, 13 females; median age at recruitment 6 years 8 months, range to 6 months-20 years; median length of follow-up 6 years 6 months, range 5 months to 18 years 3 months). All 11 symptomatic children had residual enzyme activity of <1%, or variants of the Michaelis-Menten constant which were not detected by newborn screening. Some symptomatic children showed residual impairments: hearing impairment (n=2), optic atrophy (n=2), both hearing impairment and optic atrophy ...Continue Reading

Citations

Sep 11, 2008·Internal and Emergency Medicine·Lisa CammalleriMariano Malaguarnera
Mar 10, 2009·Current Neurology and Neuroscience Reports·Nassim Zecavati, Sarah J Spence
Jan 1, 2012·Medical Journal, Armed Forces India·Rps TomarR Vasudevan
Jul 25, 2006·Archives of Disease in Childhood·L McDonaldR McWilliam
Sep 6, 2013·Neurology India·Viswanathan VenkataramanRafat Jamal
Jul 14, 2012·Advances in Pediatrics·Angela SunDerek A Wong

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