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Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.

Genes - 29 Apr 2022

Jezela-Stanek Aleksandra, Suchoń Lidia, Sobczyńska-Tomaszewska Agnieszka, Czerska Kamila, Kuśmierska Katarzyna, Taybert Joanna, Ołtarzewski Mariusz, Sykut-Cegielska Jolanta

Abstract excerpt

Biotinidase deficiency (BD) is a rare autosomal recessive metabolic disease. Previously the disease was identified only by clinical signs and symptoms, and since recently, it has been included in newborn screening programs (NBS) worldwide, though not commonly. In Europe, BD prevalence varies highly among different countries, e.g., from 1:7 116 in Turkey to 1:75 842 in Switzerland. This paper aimed to present the...

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PMID: 35627187
DOI: 10.3390/genes13050802
PMCID: PMC9140751

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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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