Aromatic amino acid decarboxylase (AADC) deficiency Tyrosine hydroxylase (TH) deficiency Dopamine beta-hydroxylase (DßH) deficiency Monoamine oxidase A (MAOA) deficiency Dopamine transporter (DAT) deficiency Vesicular monoamine transporter 2 (VMAT) deficiency Autosomal recessive GTP cyclohydrolase deficiency Autosomal dominant GTP cyclohydrolase deficiency (Segawa disease) 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency Dihydropteridine reductase (DHPR) deficiency Sepiapterin r
Conditions
Interventions
Group 1: Single drawl of maximum 10 ml of blood or skin biopsy. No follow-up required
Sponsors
Zentrum für Kinder-und Jugendmedizin Heidelberg Sektion für Neuropädiatrie und Stoffwechselmedizin
Eligibility
Sex/Gender
All
Age
0 Days to 100 Years
Inclusion criteria
Inclusion criteria: • Children and adults with confirmed diagnosis of Neurotransmitter disorders o Aromatic amino acid decarboxylase (AADC) deficiency o Tyrosine hydroxylase (TH) deficiency o Dopamine beta-hydroxylase (DßH) deficiency o Monoamine oxidase A (MAOA) deficiency o Dopamine transporter (DAT) deficiency o Vesicular monoamine transporter 2 (VMAT) deficiency • Children and adults with confirmed diagnosis of BH4 Deficiencies o Autosomal rezessive GTP cyclohydrolase deficiency o Autosomal dominant GTP cyclohydrolase deficiency (Segawa disease) o 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency o Dihydropteridine reductase (DHPR) deficiency o Sepiapterin reductase (SR) deficiency • Children and adults with confirmed diagnosis of cerebral folate deficiencies: o Folate receptor alpha (FOLR1) deficiency o Dihydrofolate reductase (DHFR) deficiency • Children and adults with further monogenetic diseases • Written informed consent given by the patient, the parents or the legal representatives
Exclusion criteria
Exclusion criteria: None
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Identification of molecular pathomechanisms using patient-specific inducible pluripotent stem cells and differentiated cell types (e.g. neurons, hepatocytes) and organoids using molecular biological and high throughput technologies. | — |
Secondary
| Measure | Time frame |
|---|---|
| Clarification of the role of oxidative stress and cell death pathways involved in pathology and analysis of observed changes in differentiation in iPSCs. Development of new therapies after identification of potential cellular target structures. | — |
Countries
Germany
Contacts
Public ContactSabine Jung-Klawitter
Zentrum für Kinder-und Jugendmedizin Heidelberg Sektion für Neuropädiatrie und Stoffwechselmedizin
Outcome results
None listed