Classic homocystinuria Methylmalonaciduria (3 known causes: Mutase deficiency [mut0, mut-], CblA und CblB defects), Combined Methylmalonaciduria und Hyperhomocystinuria resp. isolated remethylation disorder due to a congenital disorder of the vitamin B12 metabolism (8 known causes: Transcobalamin II deficiency, CblC, CblD, CblE, CblF, CblG, CblJ and CblX defects), Methylentetrahydrofolate reductase (MTHFR) deficiency, Neonatal vitamin B12 deficiency, Propionaciduria, Additional urea cycle defec
Conditions
Interventions
Group 1: Observational study of children with a disease identified in newborn screening and whose diagnosis was subsequently confirmed.
According to the study protocol, the following data are recorde
Sponsors
Universitätsklinikum Heidelberg
Eligibility
Sex/Gender
All
Age
No minimum to 18 Years
Inclusion criteria
Inclusion criteria: • Newborn in the catchment area of the Newborn screening laboratory Heidelberg ( Newborn which will get a regular screen at the newborn screening laboratory) • Written consent of at least one parent or caregiver
Exclusion criteria
Exclusion criteria: No informed consent sample doesnt provide the sufficient amount of material for the analysis
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| • Establishment of a newborn screening for 28 additional target diseases in the Heidelberg newborn screening using second tier strategies • Evaluation of whether a newborn screening for 28 other target diseases fulfills essential criteria for a population screening: o Evaluation of the process quality of the screening process o Medical benefit: Determination of the proportion of patients affected by the additionally examined diseases who were diagnosed by the screening before or after the occurrence of disease symptoms | — |
Secondary
| Measure | Time frame |
|---|---|
| • Evaluation of the medium and long-term medical benefits of screening newborns for additional target diseases by examining the treatment outcome. | — |
Countries
Germany
Outcome results
None listed