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 reductase (S
Conditions
Interventions
Group 1: Assessment of the clinical history and relevant laboratory-chemical, therapeutic, instrumental and neuropsychological parameters by the study centers. Data collection takes place within the f
Sponsors
Universitätsklinikum Heidelberg
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: • Children and adults with confirmed diagnosis of Neurotransmitter (biogenic amines) 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 o Pterin-4a-carbinolamine dehydratase (PCD) 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 confirmed diagnosis of serine deficiency disorders: o 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency o 3-phosphoserine phosphatase (3-PSP) deficiency o Phosphoserine aminotransferase deficiency • Children and adults with confirmed diagnosis of disorders of glycine metabolism: o Glycine encephalopathy (Non-ketotic hyperglycinaemia) • Children and adults with confirmed diagnosis of GABA related disorders o GABA-transaminase-deficiency o Succinate-semialdehyde-dehydroxylase deficiency • Children and adults with suspicious CSF results (suggesting neurotransmitter related disorder) without known diagnosis • Written informed consent given by the patient, the parents or the legal representatives
Exclusion criteria
Exclusion criteria: • Individuals with rare and unrelated serious comorbidities: o Down Syndrome o Intraventricular haemorrhage (°III-IV) o Severe hyperbilirubinemia with Kernikterus, o Embryo fetal alcohol syndrome o Intake of teratogen drugs during pregnancy
Design outcomes
Secondary
| Measure | Time frame |
|---|---|
| 1. Which discrepancies exist internationally regarding diagnosis, treatment and long-term management of these patients? 2. How do these rare diseases affect the quality of life of patients and their families? Quality of life questionnaires will be used (WHOQOL, PedsQL). | — |
Primary
| Measure | Time frame |
|---|---|
| 1.Description of the clinical phenotype of the participants with neurotransmitter, folate and pterin disorders •Manifestations of the first symptoms: Age and clinical description •Development of the long-term follow up •Survival rate 2.Description of variations of the disease courses 3.Description of a genotype/phenotype correlation 4.Description of the procedures associated with AADC gene therapy as well as the outcome of AADC gene therapy 5.Description of the course and the outcome of pregnancies from women with neurotransmitter related disorders until they can walk and speak at least 50 words. Data will be collected with questionnaires completed by the physicians or the patients | — |
Countries
Australia, Austria, Canada, China, Czechia, France, Germany, Greece, Hungary, India, Italy, Japan, Netherlands, Norway, Poland, Serbia, Singapore, Spain, Taiwan, Turkey, United Kingdom, United States
Contacts
Public ContactThomas Opladen
Zentrum für Kinder-und Jugendmedizin HeidelbergSektion für Neuropädiatrie und Stoffwechselmedizin
Outcome results
None listed