Treatable neurometabolic movement disorders

ICNC2024
Symposia: Neurological presentations of treatable neurometabolic disorders- diagnoses a child neurologist can't afford to miss!

Treatable neurometabolic movement disorders
Shekeeb Mohammad

Inborn errors of metabolism (IEM) can present with movement disorders resulting as either an ongoing neurophysiologic impact of metabolic imbalance or as a sequelae of episodic brain injury during metabolic decompensation. Several of these disorders are treatable. Examples of treatable neurometabolic disorders presenting with movement disorders include metal storage disorders such as Wilson disease and inherited hypermanganesemia; neurotransmitter disorders such as GTP cyclohydrolase 1 deficiency, Tyrosine hydroxylase deficiency and cerebral folate deficiency; energy metabolism disorders such as CoQ 10 deficiency, glucose transporter defect, biotin thiamin responsive basal ganglia disease and creatine deficiency syndromes; lysosomal storage disorders such as Gaucher disease and gangliosidoses; and disorders of intermediary metabolism such as biotinidase deficiency, hyperphenylalaninemia and classic homocystinuria.
This session will provide an overview of clinical scenarios presenting with movement disorders that should alert the clinician to consider an IEM. The cases will also be used to provide a framework for considering symptomatic and disease modifying medications for disorders where applicable discussing - Basic principles in treatment of IEMs associated with movement disorders, nuances with dosing and assessing treatment benefits and highlighting novel and emerging treatments.