期刊
GENES
卷 13, 期 5, 页码 -出版社
MDPI
DOI: 10.3390/genes13050802
关键词
biotinidase deficiency; molecular background; newborn screening
资金
- Polish Ministry of Health as a part of national newborn screening programme
Biotinidase deficiency (BD) is a rare metabolic disease. This study presents the molecular spectrum of BD in Polish patients diagnosed within the national newborn screening program. The prevalence of BD in this population was estimated to be 1:66,966 (1:178,577 for profound forms and 1:107,146 for partial forms). The study also provided novel data on the molecular etiology of BD.
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 molecular spectrum of BD (profound and partial forms) in Polish patients diagnosed within the national NBS of 1,071,463 newborns. The initial suspicion of BD was based on an abnormal biotinidase activity result determined in a dry blood spot (DBS) by colorimetric and by fluorimetric methods while biochemical verification was determined by serum biotinidase activity (as quantitative analysis). The final diagnosis of BD was established by serum enzyme activity and the BTD gene direct sequencing. The obtained results allowed for the estimation of disease prevalence (1:66,966 births, while 1:178,577 for profound and 1:107,146 for partial forms), and gave novel data on the molecular etiology of BD.
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