Objective: To investigate the prevalence of movement disorders (MDs), their impact on quality of life (QoL) and accompanying non-motor symptoms in patients with classical galactosemia (CG) and organic acidurias (OA).

Background: Although it is known that MDs can occur in several metabolic disorders, these symptoms receive little attention and the prevalence is uncertain. MDs are often accompanied by non-motor symptoms and the impact of motor and non-motor symptoms on daily life can be substantial (Eggink 2014).

Methods: We systematically determined MD presence in 30 CG patients (17 children) and 26 OA patients (16 children). The OA group consisted of glutaric aciduria type I (n=12), propionic aciduria (n=7) and methylmalonic aciduria (n=7). MD subtype and distribution were assessed by standardized videotaped neurological examination, scored by an expert panel. MD severity was scored with the Global Clinical Severity Index (GCI). QoL and non-motor symptoms were assessed with validated questionnaires (PedsQL, SF-36, Aachenbach).

Results: 13/30 CG patients (43%) and 20/26 OA patients (77%) had a MD. Of them, 2 CG (7%) and 7 OA patients (27%) had a moderate or worse MD (GC≥4/7). In CG MDs were more frequent in adults than in children, in OA the distribution was equal. The predominant MD in CG was tremor (20%), in OA dystonia was most prevalent (38%). A mixed MD phenotype was common. In both CG and OA we found a strikingly high proportion of behavioral and psychiatric problems, especially internalizing problems (42 and 30%). In CG, these problems were correlated with MD severity (Spearman’s Rho 0.429, p=0.018). The mean QoL score in pediatric OA patients was significantly lower than reported reference values (Bastiaansen 2004) (65.2 vs 87.6, p<0.001). QoL scores of adult OA patients were lower than reference values (Van der Zee 2012) on the domains general health perception (72.7 vs 53.9, p=0.009) and physical role limitations (79.4 vs 58.3, p=0.04). No significant QoL differences could be demonstrated in CG. QoL scores did not significantly differ between patients with and without a MD.

Conclusions: Both motor and non-motor symptoms are highly prevalent in CG and OA. In particular behavioural and latent psychiatric problems were frequently observed. We plead for awareness for these symptoms and a thorough neurological and neuropsychological evaluation in all patients with these inborn errors.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/substantial-motor-and-non-motor-symptoms-in-children-and-adults-with-classical-galactosemia-and-organic-acidurias/