Service and special activities
Presentations on national/international meetings, teaching on webinars about diagnosis and treatment of inborn errors of metabolism
1. Hot topic Hyperphenylalaninemia’s (HPA)
- differential diagnosis of HPA
- BH4 (tetrahydrobiopterin) sensitive HPA, neonatal BH4 loading
- treatment of phenylketonuria (especially BH4)
- maternal phenylketonuria
2. The patient with unknown diagnosis
- Database focused research
- Extended metabolic disgnostic (beside of whole exon sequencing) using GC/MS, NMR, UPLC/MS, high resolution MS
3. Development/support of studies related to inborn errors of metbolism (current own projects)
- Neonatal BH4 loading in 500 patients with HPA
- Genotype/Phenotype correlation in HPA
- Outcome of adult PKU patients: neurotransmitter and other CSF findings
- Selective screening of patients with a suspected metabolic disease using NMR and UPLC/MS (5000 urine samples)
- Development of an automatic NMR analysis using www.metagene.de
4. Other activities
- Support of patient societies like DIG PKU
- Individual patient support (no treatment advice!) with a possible inborn error of metabolism
- Participation in ethical commtttee of the State of Baden-Württmeberg