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HK J Paediatr (New Series)
Vol 27. No. 4,
2022
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HK J Paediatr (New Series) 2022;27:271-273
Case Report
Effective Treatment of Refractory Chorea in GNAO1 Variants by Folinic Acid
WT Cheng, CW Lam, CH Ko Department of Paediatrics and Adolescent Medicine, Caritas Medical Centre, 111 Wing Hong Street, Sham Shui Po, Kowloon, Hong Kong SAR, China WT Cheng(鄭德) MRCPCH CH Ko(高震雄) MMedSc, FHKAM(Paediatrics), FRCP(Glasg) Department of Chemical Pathology, Queen Mary Hospital, 102 Pokfulam Road, Pokfulam, Hong Kong SAR, China CW Lam(林青雲) MBChB, FRCP(Glasg), FHKAM (Pathology) Correspondence to: Dr WT Cheng Email: cwt718@ha.org.hk Received June 21, 2021
Abstract Folinic acid is known to affect synthesis and catabolism of neurotransmitter, but its role in movement disorder is unknown. In our case study, we found significant clinical improvement of refractory chorea in a girl with GNAO1 variant after therapeutic trial of folinic acid. This novel therapy not only provides safe pharmacological means for potentially lethal and debilitating condition, but spares the need of surgery for control of involuntary movement. The benefit of folinic acid was found not secondary to the cerebral folate deficiency. Future study will be required to delineate the mechanism of folinic acid in controlling movement disorders. Keyword : Chorea; GNAO1 mutation; Folinic acid
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