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Aromatic L-amino acid decarboxylase deficiency

Aromatic L-amino acid decarboxylase deficiency research fallback

⚠️ Fallback MONDO:0012084

Aromatic L-amino acid decarboxylase deficiency research fallback

Provider attempts

  • Falcon deep-research: attempted with a 75 second timeout on 2026-05-06 and terminated without producing an artifact.
  • OpenAI deep-research: attempted with a 75 second timeout on 2026-05-06 and terminated without producing an artifact.
  • Perplexity deep-research: skipped after the bounded Falcon/OpenAI attempts; curation proceeded from generated Orphanet, PubMed, DOI, and ClinicalTrials.gov caches.

Literature scope used for curation

This fallback curation is based on generated reference caches for ORPHA:35708, the international consensus guideline (PMID:28100251), clinical cohort evidence (PMID:19172410, PMID:32409695), the original biochemical case report (PMID:1357595), a systematic review of 261 patients (PMID:36268467), the intraputaminal AAV-DDC gene-therapy study (PMID:30689738), the JAMA Insights FDA approval summary for eladocagene exuparvovec (DOI:10.1001/jama.2024.28666), and the ClinicalTrials.gov cache for NCT04903288.

Curation synthesis

AADC deficiency is a DDC-related autosomal recessive neurometabolic disorder. Loss of aromatic L-amino acid decarboxylase activity reduces dopamine, serotonin, norepinephrine, and epinephrine synthesis, producing early hypotonia, global developmental delay, oculogyric crises, dystonia, autonomic symptoms, and the characteristic CSF pattern of low homovanillic acid and 5-hydroxyindoleacetic acid with elevated 3-ortho-methyldopa. The YAML uses ORPHA:35708 for structured phenotype frequencies and PubMed/ClinicalTrials.gov caches for clinical mechanisms, diagnostic evidence, and treatment support.

Key references