Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review

Table 1

Signs and symptoms reported in patients with AADC deficiency.

Common	Less common
(i) Hypotonia; (ii) Developmental delay; (iii) Movement disorders (oculogyric crisis, dystonia, and hypokinesia); (iv) Dysautonomia (nasal congestion, abnormal sweating, excessive drooling, hypotension, bradycardia, and temperature instability); (v) Pseudomyasthenic features (ptosis and fatigability)	(i) Infantile episodes of hypoglycemia; (ii) Behavioural disorders (irritability, dysphoria, and autism-like symptoms); (iii) Sleep disorders (sleepiness or insomnia); (iv) Gastrointestinal symptoms (gastroesophageal reflux, diarrhoea, and constipation); (v) Epilepsy