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Article

Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child.

Clinica chimica acta; international journal of clinical chemistry - 20 May 2015

Tonin Rodolfo, Caciotti Anna, Funghini Silvia, la Marca Giancarlo, Pasquini Elisabetta, Cayton Erica, Mooney Sean D, Guerrini Renzo, Morrone Amelia

Abstract excerpt

Biotinidase deficiency (BD), which is caused by BTD genetic lesions, if untreated, can result in neurological and cutaneous manifestations. Biotin supplementation can improve or prevent symptoms. We herewith present a family, which we studied at biochemical and molecular level, after identifying the proband through a newborn screening programme. BTD gene molecular analysis showed the proband to be compound...

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Source

Identifiers

PMID: 25795614
DOI: 10.1016/j.cca.2015.03.010

Genes

BTD

Variants

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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