Glucose transporter protein type 1-deficiency

Codes

ICD-10: G93.4

ORPHA: 71277

General information

Estimated occurrence

Very rare.

Cause

Glucose transporter protein type 1-deficiency is caused by the transport of glucose into the brain being reduced due to a disturbance in the brain’s energy turnover. Glucose is the brain’s most important source of energy and deficient function of the transporter protein GLUT 1 results in a lack of energy in the brain resulting in different symptoms.

General symptoms

The degree of seriousness varies. Symptoms start in childhood and the classic form entails late development, epilepsy, motor disorder such as shakiness, disturbance of balance and coordination as well as increased muscle tension. A mild form involves normal ability and mild motor symptoms. The disease seems to stabilise after puberty and the extent of epileptic seizures usually decreases. Most patients are on a ketogenic diet (high fat and minimum of carbohydrates).

Synonyms

GLUT 1-deficiency syndrome

Orofacial/odontological symptoms

Reduced growth of the skull (microcephaly) occurs. Psychomotor skills and speech are often retarded in children and they have pronunciation difficulties (dysartria). Teeth grinding both day and night occurs. Children who eat a ketogenic diet often experience side effects such as nausea, reflux and vomiting.

Advice on follow-up and treatment

It is important that people with glucose transporter protein type 1-deficiency have early contact with dental services for intensified preventive care and information on the oral cavity.
Teeth grinding should be followed up and, if necessary, treated with a splint.
Training in oral motor skills is sometimes required.
Speech-language and communication training is often warranted.

Sources

National Board of Health and Welfare

Updated: 2019-11-12 14:46