Abstract
High-fat ketogenic diets are the only treatment available for Glut1 deficiency (Glut1D).
Here, we describe an 8-year-old girl with classical Glut1D responsive to a 3:1 ketogenic
diet and ethosuximide. After 3 years on the diet a gradual increase of blood lipids
was followed by rapid, severe asymptomatic hypertriglyceridemia (1,910 mg/dL). Serum
lipid apheresis was required to determine liver, renal, and pancreatic function. A
combination of medium chain triglyceride-oil and a reduction of the ketogenic diet
to 1:1 ratio normalized triglyceride levels within days but triggered severe myoclonic
seizures requiring comedication with sultiam. Severe hypertriglyceridemia in children
with Glut1D on ketogenic diets may be underdiagnosed and harmful. In contrast to congenital
hypertriglyceridemias, children with Glut1D may be treated effectively by dietary
adjustments alone.
Keywords
glucose transporter - Glut1 - Glut1 deficiency - ketogenic diet - hypertriglyceridemia
- side effects - blood lipids
