European Journal of Human Genetics - Clinical utility gene card for: Biotinidase deficiency

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European Journal of Human Genetics - Clinical utility gene card for: Biotinidase deficiency

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 29 February 2012; doi: 10.1038/ejhg.2012.28

Clinical utility gene card for: Biotinidase deficiency

Sébastien Küry¹, Vincent Ramaekers², Stéphane Bézieau¹ and Barry Wolf^3,4

1. ¹CHU Nantes, Service de Génétique Médicale, Nantes, France
2. ²Centre of Autism Liège and Division of Pediatric Neurology, University Hospital Liège, Liège, Belgium
3. ³Department of Medical Genetics, Henry Ford Hospital, Detroit, MI, USA
4. ⁴Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI, USA

Correspondence: Dr S Küry, CHU de Nantes Hôtel-Dieu, Institut de Biologie, Service de Génétique Médicale, Laboratoire de génétique moléculaire, 9 quai Moncousu, Nantes cedex 1 44093, France. Tel: +33 240 08 42 99; Fax: +33 240 08 76 47; E-mail: sebastien.kury@chu-nantes.fr

1. DISEASE CHARACTERISTICS

1.1 Name of the disease (synonyms)

Biotinidase deficiency (late-onset multiple carboxylase deficiency; late-onset biotin-responsive multiple carboxylase deficiency; juvenile-onset multiple carboxylase deficiency; BTD deficiency).

1.2 OMIM# of the disease

253260.

1.3 Name of the analysed genes or DNA/chromosome segments

BTD.¹

1.4 OMIM# of the gene(s)

609019.