Aromatic L-amino acid decarboxylase deficiency
Synonyms: AADC deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aromatic L-amino acid decarboxylase deficiency | AADC deficiency |
| fr | Déficit en décarboxylase des acides aminés aromatiques | Déficit en AADC |
| de | Aromatische-L-Aminosäuredecarboxylase-Mangel | AADC-Mangel |
| es | Deficiencia de L-aminoácido aromático decarboxilasa | Deficiencia de AADC |
| it | Deficit di decarbossilasi degli L-aminoacidi aromatici | Deficit di AADC |
| nl | Deficiëntie van aromatisch L-aminozuur-decarboxylase | AADC-deficiëntie |
| pt | Deficiência de L-aminoácidos aromáticos descarboxilase | |
| pl | Niedobór dekarboksylazy L-aminokwasów aromatycznych | Niedobór AADC |
| cs | Deficit dekarboxylázy aromatických L-aminokyselin | Deficit AADC |
| uk | Дефіцит декарбоксилази ароматичних L-амінокислот | Дефіцит AADC |
| zh | 芳香族L-氨基酸脱羧酶缺乏症 | AADC缺乏症 |
| tr | Aromatik L-amino asit dekarboksilaz eksikliği | AADC eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608643 | E | validated | |
| ICD-10 | G24.8 | NTBT | attributed | validated |
| ICD-11 | 5C59.00 | NTBT | index | validated |
| MONDO | 0012084 | E | validated | |
| MeSH | C537437 | E | validated | |
| UMLS | C1291564 | E | validated | |
| GARD | 770 | E | validated | |
| MedDRA | 10084110 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:309830Disorder of catecholamine synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DDC | Disease-causing germline mutation(s) in | Assessed | HGNC:2719 | ENSG00000132437 | 107930 | 7p12.2-p12.1 | dopa decarboxylase | 21541720[PMID]_24865461[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 140 cases | Worldwide | Case(s) | Validated | 30689738[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30689738[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
38 annotations · validated 2023-08-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025455 | Decreased CSF 5-hydroxyindolacetic acid concentration | |
| HP:0003785 | Decreased CSF homovanillic acid concentration | |
| HP:0001263 | Global developmental delay | |
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0001332 | Dystonia | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000975 | Hyperhidrosis | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000737 | Irritability | |
| HP:0001270 | Motor delay | |
| HP:0010553 | Oculogyric crisis | |
| HP:0002421 | Poor head control | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
| Occasional (29-5%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0003487 | Babinski sign | |
| HP:0002019 | Constipation | |
| HP:0002307 | Drooling | |
| HP:0001260 | Dysarthria | |
| HP:0100660 | Dyskinesia | |
| HP:0002015 | Dysphagia | |
| HP:0002353 | EEG abnormality | |
| HP:0001943 | Hypoglycemia | |
| HP:0002375 | Hypokinesia | |
| HP:0002615 | Hypotension | |
| HP:0000870 | Increased circulating prolactin concentration | |
| HP:0002509 | Limb hypertonia | |
| HP:0000616 | Miosis | |
| HP:0001742 | Nasal congestion | |
| HP:0000508 | Ptosis | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0004322 | Short stature | |
| Very rare (<4-1%) | ||
| HP:0002014 | Diarrhea | |
| HP:0034392 | Joint contracture | |
| HP:0001337 | Tremor | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 36928758[PMID]_35485958[PMID]_28100251[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35708
- This record as JSON: /data/d/35708.json