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- doi: 10.1016/j.ymgme.2023.107560
- issn: 1096-7192
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Deficiency Shortages Medical examinations (Diagnosis) Diseases--Diagnosis Diseases--Testing Examinations, Medical (Diagnosis) Medical diagnosis Medical tests (Diagnosis) Coenzyme R Vitamin HCiter ce document
A.T. Tankeu et al., « Biotinidase deficiency: What have we learned in forty years? », Serveur académique Lausannois, ID : 10.1016/j.ymgme.2023.107560
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Biotinidase deficiency (BD) is an autosomal recessively inherited disorder that was first described in 1982. Forty years after its first description, we compiled available clinical data on BD with the aim of generating a more comprehensive picture of this condition. A systematic search strategy was performed in relevant databases without limits for publication date or languages. We screened 3966 records and included 144 articles reporting individuals with BD and their clinical presentation as well as the outcomes, when available. This study included 1113 individuals with BD. More than half (51.5%) of these individuals were diagnosed by newborn screening, 43.3% in presence of clinical symptoms and 5.2% due to family screening. We grouped symptomatic individuals into four main clinical presentations: neonatal-onset (