IEMbase 0100: DDC-related aromatic L-amino acid decarboxylase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 100 |
| Nosology | 23.1.02.01 |
| Gene | DDC |
| External IDs | OMIM:608643 |
| Generated mapping | AMBIGUOUS |
| Candidate DisMech targets | Aromatic_L_Amino_Acid_Decarboxylase_Deficiency.yaml; Disorder_of_Catecholamine_Synthesis.yaml#Aromatic L-amino acid decarboxylase deficiency |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as autosomal recessive DDC/AADC deficiency in the monoamine neurotransmission group. Treatability is marked yes.
The characteristic biochemical rows are decreased CSF MHPG, decreased CSF 5-HIAA, increased CSF 5-hydroxytryptophan, decreased CSF homovanillic acid, and increased CSF L-dopa. The clinical rows are developmental delay, dysarthria, dystonia, hyperkinesia, and insomnia.
Treatments are monoamine oxidase inhibitors, folinic acid, gene therapy, L-dopa plus carbidopa depending on mutation, and pyridoxine.
DisMech phenotype coverage
The generated AMBIGUOUS status is caused by two legitimate local matches. The
canonical target should be the standalone
Aromatic_L_Amino_Acid_Decarboxylase_Deficiency.yaml entry, with
Disorder_of_Catecholamine_Synthesis.yaml#Aromatic L-amino acid decarboxylase
deficiency retained as umbrella context.
The standalone entry covers biallelic DDC variants, AADC enzymatic deficiency, combined serotonin/dopamine/norepinephrine/epinephrine synthesis failure, decreased CSF HVA, decreased CSF 5-HIAA, increased 3-O-methyldopa, motor circuit dysfunction, dysautonomia, and neurodevelopmental impairment. It includes dysarthria, dystonia, oculogyric crisis, hypotonia, hypokinesia, ptosis, developmental delay, autonomic features, and disease-directed eladocagene exuparvovec gene therapy plus pyridoxine, dopamine agonist, and MAO-inhibitor pharmacotherapy.
Concordance and completeness
Judgement: ambiguous generated mapping, but high concordance after selecting the standalone AADC deficiency entry.
IEMbase is more explicit about the CSF compartment for MHPG, 5-HIAA, 5-hydroxytryptophan, HVA, and L-dopa, and includes folinic acid and the mutation-dependent L-dopa/carbidopa row. DisMech is substantially richer for mechanism, autonomic and ocular-motor features, broader phenotype evidence, and approved gene therapy.
Curation actions
- Resolve to
Aromatic_L_Amino_Acid_Decarboxylase_Deficiency.yamlas the canonical disease target. - Keep
Disorder_of_Catecholamine_Synthesis.yaml#Aromatic L-amino acid decarboxylase deficiencyas secondary umbrella context. - Consider adding IEMbase-specific CSF MHPG, 5-hydroxytryptophan, and L-dopa biomarker rows if the standalone entry is further normalized.