PracticeUpdate Conference Series - SSIEM 2018

The standard of care treatment is a ketogenic diet. This low-carbohydrate, moderate-protein, high-fat diet causes ketone production. Ketones are used as an energy source when glucose is limited. The diet helps most patients with most symptoms, even in adulthood. A ketogenic diet also helps preserve brain growth and development, so early diagnosis and treatment of GLUT1DS is critical. A great deal of variance across a wide spectrum in both the combination and severity of symptoms is observed, and symptoms may evolve over time. Suggestive symptoms seen in many GLUT1DS patients include the following: ƒ ƒ Paroxysmal exercise-induced dystonia/ dyskinesia ƒ ƒ Early-onset absence seizures before the age of 3 years ƒ ƒ Treatment-resistant seizures/epilepsy at any age ƒ ƒ Movement issues (ataxia, dystonia, chorea, tremor, gait abnormalities, and others)

" GLUT1DS cases worldwide number in the hundreds, though experts believe many patients remain undiagnosed. " Dr. Perez Gonzalez concluded that response to a ketogenic diet and the presence of drug-resistant epilepsy and/or hypoglycorrhachia are not pathognomonic markers of GLUT1DS. Genetic analysis is essential for classification of GLUT1DS, as well as tailored therapy based on the specific genetic background. www.practiceupdate.com/c/73325

ƒ ƒ Fluctuation of symptoms with hunger, fatigue, heat, illness, anxiety, excitement ƒ ƒ Symptoms are worse just after waking in the morning ƒ ƒ Symptoms improve after eating ƒ ƒ Opsoclonus-like eye/head movements in the first 2 years of life (aberrant gaze saccades) ƒ ƒ Paroxysmal neurological symptoms (seizures, movement disturbances, hemiplegia episodes, headaches, energy levels, confusion, mood) Natural history studies have shown that seizures tend to improve in adulthood and movement disorders become more pronounced. Puberty often brings changes in symptoms and treatment response. De novo mutations cause GLUT1DS in >90% of patients identified, though several patients with inherited GLUT1DS have been found. GLUT1DS is inherited most commonly through an autosomal dominant pattern, though more rare cases of autosomal recessive inheritance have been reported.

SSIEM 2018 • PRACTICEUPDATE CONFERENCE SERIES 17