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Article

Recovery of enzyme activity in biotinidase deficient individuals during early childhood.

Journal of inherited metabolic disease - 1 May 2022

Forny Patrick, Wicht Andrea, Rüfenacht Véronique, Cremonesi Alessio, Häberle Johannes

Abstract excerpt

Deficiency of the biotinidase (BTD) enzyme is an inborn error of biotin metabolism caused by biallelic pathogenic variants in the BTD gene. There are two forms, partial and profound BTD deficiency, which both can be successfully treated with pharmacological doses of biotin, justifying the inclusion of this disorder in the newborn screening in numerous countries. We investigated the BTD deficiency cohort (N = 87)...

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Identifiers

PMID: 35195902
DOI: 10.1002/jimd.12490
PMCID: PMC9310736

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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