aromatic L-amino acid decarboxylase deficiency
Findings
No curated finding names aromatic L-amino acid decarboxylase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.
Definition from the Mondo Disease Ontology (MONDO:0012084), read 2026-09-29. CC BY 4.0.
Features
54 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AthetosisHPOHP:0002305
- 11 of 11 reported patients
- Axial hypotoniaHPOHP:0008936
- 11 of 11 reported patients · Infantile onset
- Diminished movementHPOHP:0002374
- 11 of 11 reported patients
- Limb dystoniaHPOHP:0002451
- 11 of 11 reported patients
- Limb hypertoniaHPOHP:0002509
- 11 of 11 reported patients · Infantile onset
- Occasional (5% to 29% of cases)
- Oculogyric crisisHPOHP:0010553
- 11 of 11 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 42
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- 8 of 11 reported patients
- MyoclonusHPOHP:0001336
- 8 of 11 reported patients
- Nasal congestionHPOHP:0001742
- 8 of 11 reported patients
- Occasional (5% to 29% of cases)
- Exaggerated startle responseHPOHP:0002267
- 7 of 11 reported patients
- Limb tremorHPOHP:0200085
- 7 of 11 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DDCHGNC:2719
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: aromatic L-amino acid decarboxylase deficiency
- Also called
- AADC deficiencyaromatic L-amino-acid decarboxylase deficiency