Biotinidase deficiency: What have we learned in forty years?

Autor: Tankeu AT; Division of Genetic Medicine, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland., Van Winckel G; Genetic Medicine Division, Geneva University Hospitals, Geneva, Switzerland., Elmers J; Medical Library, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland., Jaccard E; Department of Medicine, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland., Superti-Furga A; Division of Genetic Medicine, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland., Wolf B; Division of Genetics, Birth Defects and Metabolism, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, United States of America; Department of Medical Genetics, Henry Ford Hospital, Detroit, MI, United States of America., Tran C; Division of Genetic Medicine, University of Lausanne and University Hospital of Lausanne, Lausanne, Switzerland. Electronic address: christel.tran@chuv.ch.
Jazyk: angličtina
Zdroj: Molecular genetics and metabolism [Mol Genet Metab] 2023 Apr; Vol. 138 (4), pp. 107560. Date of Electronic Publication: 2023 Mar 24.
DOI: 10.1016/j.ymgme.2023.107560
Abstrakt: Background: 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.
Methods: 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.
Results: 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 (<1 month; 7.9%), early childhood-onset (<2 years; 59.2%), juvenile-onset (2-16 years; 25.1%) and adult-onset (>16 years; 7.7%). BD affected five main organ systems: nervous system (67.2%), skin (53.7%), eye (34.4%), auditory (26.9%) and respiratory system (17.8%). Involvement was mainly multisystemic (82.2%) of individuals, whereas isolated system presentation was seen in only 17.2% of individuals. When reported, metabolic acidosis was present in 42.4% of symptomatic individuals and characteristic abnormal organic acid metabolites were found in 57.1%. Biotin treatment led to clinical stability or improvement in 89.2% of individuals. 1.6% of reported individuals with BD died due to non-availability of treatment or late diagnosis.
Conclusion: Newborn screening has had a major positive impact on the outcome of many individuals with BD. However, undiagnosed and non-treated BD remains a health concern. Given the risk of mortality or complications associated with late or missed diagnosis if newborn screening is not available, a trial of biotin should be considered in undiagnosed infants and adults exhibiting suspected clinical signs. Enzymatic activity and/or analysis of genetic variants can readily confirm the diagnosis of BD.
Competing Interests: Declaration of Competing Interest The authors declare no competing interests.
(Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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