Glutaric acidemia type 1

Synonym

Glutaric acidemia type 1, Glutaryl-CoA dehydrogenase deficiency

Codes

ICD10: E72.3
ORPHA: 25

Estimated occurrence  

1 in 100,000 live births. Wide variation in different populations.

Etiology  

Gene mutation on chromosome 19 (19p13.2). This mutation causes the formation of an incorrect enzyme which in turn leads to a surplus of glutaric acid and a shortage of the enzyme carnitine. Autosomal recessive inheritance.

General symptoms  

Children most often show symptoms before the age of two in conjunction with an infection, but the onset may be later during childhood or adulthood. An infection causes a metabolic crisis, which can lead to neurological impairments of varying severity. Infants may show a rapid growth of the head (not hydrocephalus).

Glutaric acidemia is now part of new-born screening for congenital metabolic disorders (the PKU test) in Sweden and in many other countries, but it is not certain that all cases are detected. Early detection permits early treatment.

Orofacial/odontological symptoms  

Grinding teeth, oral habits and malocclusion have been reported in children and young people with Glutaric acidemia type 1. Oral motor disabilities are common, which can reduce the ability to eat, drink and control saliva. Many are difficult to understand or cannot speak at all.

Orofacial/odontological treatment  

  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.
  • Tooth grinding should be followed up, and be managed with a splint when necessary.
  • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.
  • Training in oral motor skills and extra stimulation in cases of eating disorders, speech difficulties and impaired saliva control may be necessary.
  • 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.