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GALACTOSEMIA [1 record]

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Record 1 2024-09-20

English

Subject field(s)
  • Human Diseases - Various
  • Liver and Biliary Ducts
  • Genetics
CONT

Galactosemia is a rare hereditary disease that can lead to cirrhosis in infants, and early, devastating illness if not diagnosed quickly. This disease is caused by elevated levels of galactose (a sugar in milk) in the blood resulting from a deficiency of the liver enzyme required for its metabolism (breakdown).

OBS

The term "galactosemia" refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia ...

French

Domaine(s)
  • Maladies humaines diverses
  • Foie et voies biliaires
  • Génétique
DEF

Maladie métabolique héréditaire affectant le métabolisme du galactose, caractérisée par une augmentation de la concentration du galactose et de ses métabolites toxiques dans le sang et les organes.

Spanish

Campo(s) temático(s)
  • Enfermedades humanas varias
  • Hígado y conductos biliares
  • Genética
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