Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
neurometabolic disorder inborn error of metabolism |
| gptkbp:affects |
central nervous system
peripheral nervous system aromatic L-amino acid decarboxylase enzyme |
| gptkbp:cause |
deficiency of dopamine
deficiency of epinephrine deficiency of norepinephrine deficiency of serotonin |
| gptkbp:causedBy |
mutations in DDC gene
|
| gptkbp:diagnosedBy |
genetic testing
measurement of neurotransmitter metabolites in CSF |
| gptkbp:firstDescribed |
1990s
|
| https://www.w3.org/2000/01/rdf-schema#label |
AADC deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
608643
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
hypotonia
movement disorders seizures autonomic dysfunction developmental delay oculogyric crises |
| gptkbp:synonym |
AADCD
aromatic L-amino acid decarboxylase deficiency |
| gptkbp:treatment |
gptkb:monoamine_oxidase_inhibitors
gptkb:pyridoxine_(vitamin_B6) dopamine agonists gene therapy |
| gptkbp:bfsParent |
gptkb:DOPA_decarboxylase
|
| gptkbp:bfsLayer |
7
|