Technical standards and guidelines for the diagnosis of biotinidase deficiency GENETICS IN MEDICINE Cowan, T. M., Blitzer, M. G., Wolf, B. 2010; 12 (7): 464-470

Abstract

Biotinidase deficiency is an autosomal recessively inherited disorder of biotin recycling that is associated with neurologic and cutaneous consequences if untreated. Fortunately, the clinical features of the disorder can be ameliorated or prevented by administering pharmacological doses of the vitamin biotin. Newborn screening and confirmatory diagnosis of biotinidase deficiency encompasses both enzymatic and molecular testing approaches. These guidelines were developed to define and standardize laboratory procedures for enzymatic biotinidase testing, to delineate situations for which follow-up molecular testing is warranted, and to characterize variables that can influence test performance and interpretation of results.

View details for DOI 10.1097/GIM.0b013e3181e4cc0f

View details for Web of Science ID 000279891300009

View details for PubMedID 20539236