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Neonatal screening for biotinidase deficiency in north eastern Italy
A B Burlina1, W G Sherwood, M V Marchioro
1Department of Paediatrics, University of Verona, Italy.
Insights
Neonatal mass screening for biotinidase deficiency is recommended. Early detection in newborns is crucial for managing this inborn error of metabolism, similar to other screened conditions.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Biotinidase deficiency is an inborn error of metabolism.
- Neonatal mass screening programs aim to detect treatable genetic disorders early.
- Criteria for inclusion in screening programs include prevalence and treatability.
Purpose of the Study:
- To evaluate the feasibility and initial yield of a neonatal mass screening program for biotinidase deficiency.
- To determine the prevalence of biotinidase deficiency in a defined newborn population.
Main Methods:
- Screening of 24,300 newborns over a 6-month period.
- Biochemical assays to detect biotinidase deficiency.
Main Results:
- One infant with biotinidase deficiency was identified.
- The prevalence appears comparable to other established newborn screening targets.
Conclusions:
- Biotinidase deficiency meets the criteria for inclusion in neonatal mass screening.
- Preliminary data support the integration of biotinidase deficiency screening into existing newborn metabolic disorder programs.
Abstract:
Biotinidase deficiency satisfies all the criteria for incorporation into neonatal mass screening programmes for inborn errors of metabolism. We report our preliminary experiences with screening of 24,300 newborns during a 6 month-period when 1 infant with biotinidase deficiency was detected. On the basis of these results, this disorder appears to be as common as other well known metabolic disorders for which mass screening is available.