The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.

An increasing trend in cerebral 5‐HIAA levels was seen in Asl Neo/Neo mice compared to WT mice ( p = 0.09) (Figure 4G ). 4 DISCUSSION This study sheds light on the natural history of neurodegenerative‐related symptoms, movement disorder, hypotonia/fatigue and abnormal behaviour, which are common but poorly characterised features in ASA chronic encephalopathy. 3 , 21 After a symptom‐free period during childhood, neurodegenerative‐related symptoms develop progressively during the second and third decades of life, affecting 29% of patients.

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