Definition
Galactosemia is a metabolic disease characterized by galactose-1-phosphate uridyl transferase enzyme deficiency, which presents with sepsis-like symptoms in the neonatal period and long-term complications.
Symptoms
- Sepsis-like picture in the newborn
- Liver failure
- Cataract
- Developmental delay
Reasons
GALT gene mutation.
Diagnosis
Newborn screening, enzyme activity.
Treatment
Galacto-free diet.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of a sepsis-like condition, emergency services should be consulted.
This page is for general information purposes only.