aromatic-L-amino-acid decarboxylase deficiency (AADC 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