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Long-term results of selective screening for inborn errors of metabolism
1University Children's Hospital, Freiburg, Germany.
Insights
This study screened 40,000 children for inborn errors of metabolism, finding 464 cases. Organic acidurias were common, with an overall incidence of 1:6700, highlighting the need for ongoing metabolic screening.
Area of Science:
- Clinical Biochemistry
- Pediatric Medicine
- Medical Genetics
Background:
- The University Children's Hospital of Freiburg has offered selective screening for inborn errors of metabolism since 1973.
- The service specifically emphasizes the diagnosis of organic acidurias.
Purpose of the Study:
- To evaluate the effectiveness and findings of a long-term metabolic screening program.
- To determine the incidence of various inborn errors of metabolism, particularly organic acidurias.
Main Methods:
- Screening of 46,700 specimens from approximately 40,000 pediatric patients between 1973 and 1990.
- Utilized methods detailed in Table 1 for selective screening.
- Preselection of patients by local clinical pediatricians.
Main Results:
- A total of 464 cases of inborn errors of metabolism were diagnosed.
- This included 242 cases of 23 different organic acidurias and 222 cases of 28 other metabolic disorders.
- The overall incidence of all organic acidurias was estimated at 1:6700.
Conclusions:
- The consistent number of diagnosed cases indicates a sustained demand for metabolic screening services.
- The increasing number of children investigated suggests a growing need for these diagnostic services.
- The study provides an appraisal of the incidence of organic acidurias and their common types.
Abstract:
Since 1973 the University Children's Hospital of Freiburg has provided a service devoted to selective screening for inborn errors of metabolism with particular emphasis on organic acidurias. Patients to be investigated are preselected by local clinical paediatricians. Between 1973 and the end of 1990, 46,700 specimens from approximately 40,000 patients were screened by the methods listed in Table 1. A total of 464 cases were found consisting of 51 different diseases, 242 cases of 23 different organic acidurias and 222 cases of 28 other inborn errors of metabolism. The number of cases diagnosed parallels the number of patients investigated showing that there is still a real demand for metabolic screening. The number of children to be investigated is steadily increasing. Using the presented and already published data an appraisal of the overall incidence of all organic acidurias (1:6700) has been made as well as of the frequencies of the most common types of these disorders.