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Severe Hypertriglyceridemia in Glut1D on Ketogenic Diet
Joerg Klepper1, Baerbel Leiendecker2, Nicole Heussinger1
1Children's Hospital Aschaffenburg Alzenau, Aschaffenburg, Germany.
Neuropediatrics
|February 24, 2016
Summary
High-fat ketogenic diets treat Glut1 deficiency (Glut1D) but can cause severe hypertriglyceridemia. Dietary adjustments, not apheresis, effectively managed this complication in a child, highlighting potential underdiagnosis.
Area of Science:
- Metabolic disorders
- Neurology
- Pediatrics
Background:
- High-fat ketogenic diets are the sole treatment for Glut1 deficiency (Glut1D).
- Ethosuximide is often used alongside dietary therapy.
Observation:
- An 8-year-old girl with Glut1D developed severe asymptomatic hypertriglyceridemia after 3 years on a 3:1 ketogenic diet.
- Serum lipid apheresis was necessary for assessment of organ function.
Findings:
- A combination of medium-chain triglyceride oil and a 1:1 ketogenic diet normalized triglyceride levels rapidly.
- This dietary adjustment led to severe myoclonic seizures, requiring sultiam treatment.
Implications:
- Severe hypertriglyceridemia in children with Glut1D on ketogenic diets may be underdiagnosed and poses risks.
- Dietary modifications alone can effectively manage hypertriglyceridemia in Glut1D, unlike congenital forms.
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