A 7-year-old girl presented with persistent anxiety symptoms for several years following gene therapy for an ultrarare neurometabolic disorder (aromatic L-amino acid decarboxylase [AADC] deficiency). AADC is the final enzyme in the monoamine synthesis pathway (Figure 1). 1 Its absence results in a severe combined deficiency in serotonin, dopamine, epinephrine, and norepinephrine, causing significant developmental delays, hypotonia, and dystonia. The incidence of AADC deficiency is estimated at ∼1 in 500,000, 2 and ∼200 cases have been described. 1 Recently available disease-modifying gene therapy for this condition dramatically improves motor symptoms, and received regulatory approval in some regions in 2022. 2 There are no data to guide psychiatric care post gene therapy for AADC or other neurologic disorders to date. 3 .
Keyphrases
- genome wide
- copy number
- amino acid
- genome wide identification
- replacement therapy
- palliative care
- sleep quality
- mental health
- early onset
- transcription factor
- dna methylation
- gene expression
- risk factors
- chronic pain
- electronic health record
- uric acid
- quality improvement
- big data
- deep learning
- artificial intelligence
- combination therapy