TY - JOUR
T1 - Eye movement disorders in inborn errors of metabolism
T2 - A quantitative analysis of 37 patients
AU - Koens, Lisette H.
AU - Tuitert, Inge
AU - Blokzijl, Hans
AU - Engelen, Marc
AU - Klouwer, Femke C. C.
AU - Lange, Fiete
AU - Leen, Wilhelmina G.
AU - Lunsing, Roelineke J.
AU - Koelman, Johannes H. T. M.
AU - Verrips, Aad
AU - de Koning, Tom J.
AU - Tijssen, Marina A. J.
N1 - Funding Information: No financial disclosure related to research covered in this article. Lisette Koens, Inge Tuitert, Hans Blokzijl, Femke Klouwer, Fiete Lange, Willemijn Leen, and Hans Koelman report no conflict of interests. Marc Engelen received unrestricted research grants from Minoryx, SwanBio, Autobahn Tx, Blued Bird Bio and Poxel, and consultancy fees from Blue Bird Bio, Autobahn Tx and Poxel. Ineke Lunsing September 14, 2021 DSMB online meeting MCT8‐2019‐2—Tiratricol treatment of children with Monocarboxylate Transporter 8 deficiency: Triac Trial II. The payment was made to the neurology department, UMCG. Aad Verrips receives honoraria from serving as a consultant for Leadiant Biosciences, Inc. (USA) and Leadiant Biosciences Ltd (UK). Funding Information: Tom de Koning reports grants from the Metabolic Power Foundation, the Piet Poortman Foundation, the North Sea Myoclonus Foundation, and personal fees from Actelion pharmaceuticals, and Nutricia Medical Nutrition. Publisher Copyright: © 2022 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.
PY - 2022/9/1
Y1 - 2022/9/1
N2 - Inborn errors of metabolism are genetic disorders that need to be recognized as early as possible because treatment may be available. In late-onset forms, core symptoms are movement disorders, psychiatric symptoms, and cognitive impairment. Eye movement disorders are considered to be frequent too, although specific knowledge is lacking. We describe and analyze eye movements in patients with an inborn error of metabolism, and see whether they can serve as an additional clue in the diagnosis of particularly late-onset inborn errors of metabolism. Demographics, disease characteristics, and treatment data were collected. All patients underwent a standardized videotaped neurological examination and a video-oculography. Videos are included. We included 37 patients with 15 different inborn errors of metabolism, including 18 patients with a late-onset form. With the exception of vertical supranuclear gaze palsy in Niemann-Pick type C and external ophthalmolplegia in Kearns-Sayre syndrome, no relation was found between the type of eye movement disorder and the underlying metabolic disorder. Movement disorders were present in 29 patients (78%), psychiatric symptoms in 14 (38%), and cognitive deficits in 26 patients (70%). In 87% of the patients with late-onset disease, eye movement disorders were combined with one or more of these core symptoms. To conclude, eye movement disorders are present in different types of inborn errors of metabolism, but are often not specific to the underlying disorder. However, the combination of eye movement disorders with movement disorders, psychiatric symptoms, or cognitive deficits can serve as a diagnostic clue for an underlying late-onset inborn error of metabolism.
AB - Inborn errors of metabolism are genetic disorders that need to be recognized as early as possible because treatment may be available. In late-onset forms, core symptoms are movement disorders, psychiatric symptoms, and cognitive impairment. Eye movement disorders are considered to be frequent too, although specific knowledge is lacking. We describe and analyze eye movements in patients with an inborn error of metabolism, and see whether they can serve as an additional clue in the diagnosis of particularly late-onset inborn errors of metabolism. Demographics, disease characteristics, and treatment data were collected. All patients underwent a standardized videotaped neurological examination and a video-oculography. Videos are included. We included 37 patients with 15 different inborn errors of metabolism, including 18 patients with a late-onset form. With the exception of vertical supranuclear gaze palsy in Niemann-Pick type C and external ophthalmolplegia in Kearns-Sayre syndrome, no relation was found between the type of eye movement disorder and the underlying metabolic disorder. Movement disorders were present in 29 patients (78%), psychiatric symptoms in 14 (38%), and cognitive deficits in 26 patients (70%). In 87% of the patients with late-onset disease, eye movement disorders were combined with one or more of these core symptoms. To conclude, eye movement disorders are present in different types of inborn errors of metabolism, but are often not specific to the underlying disorder. However, the combination of eye movement disorders with movement disorders, psychiatric symptoms, or cognitive deficits can serve as a diagnostic clue for an underlying late-onset inborn error of metabolism.
KW - eye movement disorders
KW - inborn errors of metabolism
KW - late-onset
KW - movement disorders
UR - http://www.scopus.com/inward/record.url?scp=85133674745&partnerID=8YFLogxK
U2 - https://doi.org/10.1002/jimd.12533
DO - https://doi.org/10.1002/jimd.12533
M3 - Article
C2 - 35758105
SN - 0141-8955
VL - 45
SP - 981
EP - 995
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
IS - 5
ER -