loading...| Preferred Name |
Aromatic L-amino acid decarboxylase deficiency |
| ID |
http://www.orpha.net/ORDO/Orphanet_35708 |
| alternative_term |
AADC deficiency |
| definition |
A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion). |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35708 |
| has_age_of_onset |
Neonatal Infancy |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
ICD-10:G24.8 ICD-11:5C59.00 OMIM:608643 UMLS:C1291564 |
| label |
Aromatic L-amino acid decarboxylase deficiency |
| notation |
ORPHA:35708 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_35708 |
| prefLabel |
Aromatic L-amino acid decarboxylase deficiency |
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 140.0 (Case) |
| treeView | |
| subClassOf |