Literature DB >> 6690118

A screening method for biotinidase deficiency in newborns.

G S Heard, J R Secor McVoy, B Wolf.   

Abstract

We describe a method for neonatal screening for biotinidase (EC 3.5.1.12) deficiency. Biotinidase activity is assessed colorimetrically from dried samples of whole blood spotted on the same filter papers as used in the neonatal screening for phenylketonuria. After the reaction, samples from normal infants are characteristically purple, whereas those from affected individuals are straw-colored. To confirm the deficiency, the enzyme is quantitatively assayed in additional blood spots or serum. A pilot study has been initiated with samples obtained by the Commonwealth of Virginia for phenylketonuria testing.

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Year:  1984        PMID： 6690118

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


  32 in total

1.  Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies.

Authors:  Dorothea Möslinger; Adolf Mühl; Terttu Suormala; Regula Baumgartner; Sylvia Stöckler-Ipsiroglu
Journal:  Eur J Pediatr       Date:  2003-11-20       Impact factor: 3.183

2.  The stability of markers in dried-blood spots for recommended newborn screening disorders in the United States.

Authors:  B W Adam; E M Hall; M Sternberg; T H Lim; S R Flores; S O'Brien; D Simms; L X Li; V R De Jesus; W H Hannon
Journal:  Clin Biochem       Date:  2011-09-21       Impact factor: 3.281

3.  Expanded newborn screening in Greece: 30 months of experience.

Authors:  Yannis L Loukas; Georgios-Stefanos Soumelas; Yannis Dotsikas; Vassiliki Georgiou; Elina Molou; Georgia Thodi; Maria Boutsini; Sofia Biti; Konstantinos Papadopoulos
Journal:  J Inherit Metab Dis       Date:  2010-08-19       Impact factor: 4.982

Review 4.  Clinical utility gene card for: Biotinidase deficiency-update 2015.

Authors:  Sébastien Küry; Vincent Ramaekers; Stéphane Bézieau; Barry Wolf
Journal:  Eur J Hum Genet       Date:  2015-11-18       Impact factor: 4.246

5.  Worldwide survey of neonatal screening for biotinidase deficiency.

Authors:  B Wolf
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

6.  Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: effect of biotin supplementation.

Authors:  A B Burlina; M Dermikol; A Mantau; S Piovan; L Grazian; F Zacchello; Y Shin
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 7.  Newborn Screening for Lysosomal Storage Disorders.

Authors:  Roy W A Peake; Olaf A Bodamer
Journal:  J Pediatr Genet       Date:  2016-12-02

8.  Biotinidase deficiency-Diagnosis by enzyme assay and a follow-up study.

Authors:  N Ananth; G S Praveen Kumar
Journal:  Indian J Clin Biochem       Date:  2003-07

9.  Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn.

Authors:  G Dunkel; C R Scriver; C L Clow; S Melançon; B Lemieux; A Grenier; C Laberge
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

10.  Neonatal screening for biotinidase deficiency. A pilot study in Scotland.

Authors:  R Kennedy; R W Girdwood; M D King
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982
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