Aromatic L-amino acid decarboxylase deficiency
GPTKB entity
Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
inborn error of metabolism |
| gptkbp:affects |
dopamine synthesis
serotonin synthesis |
| gptkbp:alsoKnownAs |
gptkb:AADC_deficiency
aromatic amino acid decarboxylase deficiency |
| gptkbp:diagnosedBy |
genetic testing
CSF neurotransmitter analysis |
| gptkbp:firstDescribed |
1990s
|
| https://www.w3.org/2000/01/rdf-schema#label |
Aromatic L-amino acid decarboxylase deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:DDC_gene
|
| gptkbp:OMIM |
608643
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
hypotonia
movement disorders autonomic dysfunction developmental delay oculogyric crises |
| gptkbp:treatment |
gptkb:monoamine_oxidase_inhibitors
dopamine agonists gene therapy pyridoxine |
| gptkbp:bfsParent |
gptkb:DOPA_decarboxylase
|
| gptkbp:bfsLayer |
7
|