Glucose Transporter Protein Type 1-Deficiency

Synonym

GLUT 1-deficiency syndrome

Codes

ICD-10: G93.4
ORPHA: 71277

Estimated occurrence

Very rare

Etiology

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).

Orofacial/odontological symptoms

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

Orofacial/odontological treatment

  • It is important that people with this diagnosis 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

  • The rare disease database of the Swedish National Board of Health and Welfare.
  • The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
  • The Documentation from the Ågrenska national competence centre for rare diseases.
Updated: 2017-09-12 14:21