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aromatic-L-amino-acid decarboxylase deficiency (AADC deficiency); L-dopa decarboxylase deficiency
Pathology:
- combined serotonin & catecholamine deficiency
Genetics:
- autosomal recessive
- associated with defects in DDC
Clinical manifestations:
- developmental & psychomotor delay
- poor feeding
- lethargy
- ptosis
- intermittent hypothermia
- gastrointestinal disturbances
- onset is early in infancy
Laboratory:
- L-dopa decarboxylase in plasma
Management:
- AADC gene therapy
General
inborn error of metabolism
Database Correlations
OMIM 608643
References
- OMIM :accession 608643
- Christine CW, Bankiewicz KS, Van Laar AD et al.
Magnetic resonance imaging-guided phase 1 trial of putaminal AADC gene
therapy for Parkinson's disease.
Ann Neurol. 2019 May;85(5):704-714. Epub 2019 Mar 26.
PMID: 30802998
https://onlinelibrary.wiley.com/doi/full/10.1002/ana.25450
- Christine CW, Richardson RM, Van Laar AD et al.
Safety of AADC gene therapy for moderately advanced Parkinson disease:
Three-year outcomes from the PD-1101 trial.
Neurology 2021 Oct 14; [e-pub].
PMID: 34649873
https://n.neurology.org/content/early/2021/10/14/WNL.0000000000012952
- George J
First Brain-Delivered Gene Therapy Approved for AADC Deficiency.
Novel treatment is indicated for children and adults with the rare disorder.
MedPage Today November 14, 2024
https://www.medpagetoday.com/neurology/generalneurology/112915