Format

Send to

Choose Destination
See comment in PubMed Commons below
Genet Med. 2010 Jul;12(7):464-70. doi: 10.1097/GIM.0b013e3181e4cc0f.

Technical standards and guidelines for the diagnosis of biotinidase deficiency.

Author information

1
Department of Pathology, Stanford University Medical Center, Stanford, California, USA.

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.

PMID:
20539236
DOI:
10.1097/GIM.0b013e3181e4cc0f
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group
    Loading ...
    Support Center