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Article

Analysis of mutations causing biotinidase deficiency.

Human mutation - 1 Sept 2010

Pindolia Kirit, Jordan Megan, Wolf Barry

Abstract excerpt

Biotinidase deficiency is an inherited disorder in which the vitamin, biotin, is not recycled. Individuals with biotinidase deficiency can develop neurological and cutaneous symptoms if they are not treated with biotin. Biotinidase deficiency screening has been incorporated into essentially all newborn screening programs in the United States and in many countries. We now report 140 known mutations in the...

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Identifiers

PMID: 20556795
DOI: 10.1002/humu.21303

Genes

BTD

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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