title: Severe Hypertriglyceridemia in Glut1D on Ketogenic Diet.
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.
authors.affiliation: Children's Hospital Aschaffenburg Alzenau, Aschaffenburg, Germany.
authors.forename: Joerg
authors.initials: J
authors.lastname: Klepper
authors.affiliation: Department of Paediatric Neurology, University of Essen, Essen, Germany.
authors.forename: Baerbel
authors.initials: B
authors.lastname: Leiendecker
authors.affiliation: Children's Hospital Aschaffenburg Alzenau, Aschaffenburg, Germany.
authors.forename: Nicole
authors.initials: N
authors.lastname: Heussinger
authors.affiliation: Department of Paediatrics, University of Freiburg, Freiburg, Germany.
authors.forename: Ekkehart
authors.initials: E
authors.lastname: Lausch
authors.affiliation: Children's Hospital Klinikum Fürth, Fürth, Germany.
authors.forename: Friedrich
authors.initials: F
authors.lastname: Bosch
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications* / Q000178:diet therapy*; D002648:Child; D055423:Diet, Ketogenic / Q000009:adverse effects*; D005260:Female; D051272:Glucose Transporter Type 1 / Q000172:deficiency; D006801:Humans; D015228:Hypertriglyceridemia / Q000150:complications* / Q000175:diagnosis*; D009004:Monosaccharide Transport Proteins / Q000172:deficiency*
chemical_list: D051272:Glucose Transporter Type 1; D009004:Monosaccharide Transport Proteins; C495677:SLC2A1 protein, human