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Health Research, Vol. 1, Issue 1, Dec  2017, Pages 50-65; DOI: 10.31058/j.hr.2017.11005 10.31058/j.hr.2017.11005

Clinical Indications and Outcome of Biotinidase Deficiency Screening among Children and Youths in a Scottish NHS Region Between 2014 and 2016

Health Research, Vol. 1, Issue 1, Dec  2017, Pages 50-65.

DOI: 10.31058/j.hr.2017.11005

Michael O. Ogundele *1

1 Community Paediatric Unit, NHS Fife, Glenwood Health Centre, Glenrothes, Scotland

Received: 6 December 2017; Accepted: 27 December 2017; Published: 23 January 2018

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Abstract

Biotinidase deficiency (BTD) is an autosomal recessive metabolic disorder characterized by neurodevelopmental and cutaneous disorders.  Individuals with a biotinidase deficiency have either homozygous or compound heterozygous variants of biotinidase (BT) enzyme.   We aimed to analyze the pattern and outcome of investigations for BTD among for children and young people in a Scottish NHS Board.  We retrospectively analysed the clinical and laboratory data of all children within the Fife area who were screened for BTD between July 2014 and July 2016.   BTA levels ranged between 2.7 and 14.1 nmol/min/mL from a total of 191 patients.  262 tests were requested for 243 children aged between 1 month and 17 years-6 months (Mean 70 months).  75 of the samples (29%) were ordered to be repeated.  59 samples from 53 patients (22%) could not be analysed for reasons including “insufficient sample” (34), “unsuitable bottle” (10), “missed in error” (7), and “samples leaked in transit” (3).   The commonest indications for the BTD screening were developmental delay (63%) and social communication concerns (49%).  The commonest professionals requesting the tests were the either the consultant or specialist Community Paediatricians (93%).   None of the 191 patients analysed had BTD.  However a substantial proportion of the patients (22%) could not be analysed due to various problems with their blood samples.  It is therefore difficult to determine precisely the prevalence of BT deficiency in this small cohort of children and adolescents.  A larger prospective study is required to verify the true prevalence of BTD in the population.  

Keywords

Biotin, Biotinidase Screening, Biotinidase Deficiency, Enzyme, Developmental Delay, Learning Disability, Metabolic Disorder, Inborn Errors

Copyright

© 2017 by the authors. Licensee International Technology and Science Publications (UK). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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