aromatic-L-amino-acid decarboxylase deficiency (AADC deficiency); L-dopa decarboxylase deficiency
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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
Management
More general terms
References
- ↑ OMIM https://mirror.omim.org/entry/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: https://www.ncbi.nlm.nih.gov/pubmed/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: https://www.ncbi.nlm.nih.gov/pubmed/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