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Article

Forty-eight novel mutations causing biotinidase deficiency.

Molecular genetics and metabolism - 1 Mar 2016

Procter Melinda, Wolf Barry, Mao Rong

Abstract excerpt

Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin biotin and is characterized by neurological and cutaneous symptoms. The symptoms can be ameliorated or prevented by administering pharmacological doses of biotin. Since 2008, approximately 300 samples have been submitted to ARUP's Molecular Sequencing Laboratory for biotinidase mutation...

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Identifiers

PMID: 26810761
DOI: 10.1016/j.ymgme.2016.01.002

Genes

BTD

Provenance

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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