Aspartylglucosaminuria

Codes

ICD-10: E77.1

ORPHA: 93

General information

Estimated occurrence

Very rare.

Cause

Autosomal recessive inherited through a mutated (changed) gene that controls the formation of the enzyme aspartylglycosaminidase. The gene of this enzyme is on chromosome 4

General symptoms

Children are often symptom-free at birth. Gastrointestinal problems and repeated ear infections and respiratory infections are common during the first few years of life. Umbilical and inguinal hernia is common. First signs of abnormal development are motoric clumsiness, concentration difficulties and delayed speech and language development. Epilepsy and sleep disturbances are common. Some are sensitive to sunlight. After 25-30 years of age the person regresses at a faster rate in both motor and intellectual abilities.

Synonyms

AGU

Orofacial/odontological symptoms

Characteristic facial features are associated with the diagnosis. Effects on oral motor skills may cause problems with speech, eating and drooling. In some, the voice becomes hoarse. Enlarged gums (gingival hyperplasia), mucosal changes and swelling of the cheeks, enlarged tongue and impaired jaw opening capacity may occur. Malocclusions are frequent.

Advice on follow-up and treatment

Early contact with dental services for intensified prophylactic care and oral hygiene information is essential for individuals with Aspartylglucosaminuria.
Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed.
When the jaws do not open properly, the function of the jaw joint should be investigated, and appropriate treatment thereafter prescribed (such as jaw-stretching exercises or surgery).
Speech and language difficulties should be treated by a speech therapist.
Oral motor skill training and communication practice are often required.

Sources

National Board of Health and Welfare

Updated: 2019-11-12 14:29