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Galactosemia

Codes

IDC-10: E74.2

ORPHA: 352

Report from the Questionnaire Report from the Observation Chart

General information

Estimated occurrence
1:100,000 live births
Cause
Galactosemia is an umbrella term for a group of hereditary diseases involving deficiency of one of the enzymes that are needed to convert the sugar galactose to glucose in the liver. The most common type is GALT, galactose-1-phosphate uridylyltransferase, often called classic galactosemia. GALT deficiency can lead to damage to the liver, kidneys, central nervous system, the crystalline lens, and the ovaries.
General symptoms
Children generally fall ill within the first two weeks of life, with unspecific symptoms like muscle weakness, difficulties sucking, and vomiting. Jaundice is a sign that the functions of the liver are affected. Liver enlargement, increased bleeding tendency, low blood sugar, clouding of the crystalline lens, and severe general infection can also emerge.

Orofacial/odontological symptoms

There may be an increased risk of caries, healing ability can be impaired, and the tendency to bleed somewhat increased. Mild enamel changes, a narrow, high palate, a tendency towards a so-called open frontal bite, and low muscle tension in the lips have also been observed. Some degree of jaw hypermobility, difficulties chewing, and some effect on speech can be present. Many children suffering from galactosemia have language difficulties, and over half have difficulties with their speech motor skills. Difficulties eating are also common.

Advice on follow-up and treatment

  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.
  • An increased tendency to bleed may result in complications when teeth are extracted.
  • Speech and language difficulties should be treated by a speech therapist.

Sources

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