LCHAD deficiency

Codes

IDC-10: E71.3

ORPHA: 5

Report from the Questionnaire Report from the Observation Chart

General information

Estimated occurrence
1-2:100,000 live births.
Cause
Autosomal recessive inheritance. Deficiency in an enzyme (LCHAD-enzyme) that oxidizes long chain fatty acids.
General symptoms
The disorder often causes hypoglycemia (low blood sugar), lethargy, hypotonia (low muscle tone) and affects the heart and liver. Many are susceptible to infection. Abnormalities in the retina may cause visual impairment and sensitivity to light. Brain damage and development delay may occur as a result of the child becoming seriously ill. Frequent high-carbohydrate meals are necessary and a fat-free diet is recommended. Nearly all those with LCHAD deficiency have a gastrosomy.
Synonyms
Long Chain 3-Hydroxy-Akyl-CoA Dehydrogenase Deficiency.

Orofacial/odontological symptoms

There are no known specific symptoms related to the teeth or bite in LCHAD deficiency. Eating difficulties and frequent vomiting are common. Many children who are enterally fed eat only small portions by mouth and lack appetite. When general development is delayed, even speech and oral motor development may be affected. There could be an increased risk of caries due to frequent meals and frequent vomiting.

Advice on follow-up and treatment

  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.
  • It is important to bear in mind in relation to dental treatment, that individuals with LCHAD may experience problems with light sensitivity.
  • Children with eating difficulties often need extra dental care, e.g. help with oral hygiene and fluoride treatment.
  • Persons with heart defects may require prophylactic antibiotics prior to oral interventions where bleeding is to be expected.
  • Eating and swallowing difficulties should be investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.
  • Oral motor skill training and stimulation is recommended for eating difficulties.
  • Speech and language difficulties are investigated and treated by a speech-language pathologist.
  • When treating medically compromised patients always contact their doctor for medical advice.

Sources

Rare diseases
Updated: 0001-01-01 00:00