Galactosemy

The term galactosemy has two significances: it is the rate of Galactose in the Sang, which is normally lower than 45 mg/l , but it is especially employed to indicate a congenital Maladie.

The galactosemy is a Genetic disease by anomaly of the metabolism of the Glucide S. This disorder involves serious demonstrations being able to threaten the life of the child reaches in the absence of treatment. These disorders are: the refusal to drink, of the difficulties of the food, the vomiting, diarrhea, a hepatic insufficiency related to a Hepatomegaly, serious bleedings and infections. a Ictère, a state of lethargy, an edema and a Ascite. The anorexia involves a fast fall of the curve of weight, an insufficient growth. The ictère (jaundice) is intense and durable.

This disease is due to specific changes concerning three enzymes of the metabolism:

The galactokinase (GALK), which phosphoryl galactose.
The uridine diphosphate (UDP) galactose-4-epimérase, which transforms galactose phosphates in glucose phosphates.
Galactose 1 phosphates uridyl transférase (GALT), which transfers the uridine from (new) glucose towards galactose according to. The changes of this gene are most frequent.

This disease reaches 1 newborn out of 35.000 in Europe

Untreated, the affection evolves quickly to the failure hépatocellulaire and renal with Septicémie with bacterium gram negative (Escherichia coli) in a few days.
A nuclear cataract appears in a few days or weeks and quickly becomes irreversible.

A food low in Lactose and galactose before the first ten days of life makes disappear the majority from the symptoms and avoid the appearance of complications. In spite of an adapted treatment, the children reached of galactosemy have an increased risk of delay of mental development, disorders of the word and disorders moteurs.
The girls have a risk increased of early menopause.

Mode of transmission

It is about a recessive autosomic Transmission.

Sources

  • Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 230400 * Louis J Elsas II, Galactosemia In: GeneReviews At GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1997-2005.
  • Lexicon of medical terminology Biotop

External bonds

  • Association of the Families Galactosémique de France: documents and articles on the disease and the treatments

  • Orphanet, site concerning the rare diseases

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