What are the symptoms of the disease, how is it diagnosed and treated? - Infants with Classic Galactosemia have little energy, failure to thrive, little to no weight gain, yellowing of skin and eyes, liver damage, abnormal bleeding, sepsis and shock. In the long term, it can cause delayed development, cataract formation, and intellectual disabilities. In females, it can cause the lose of reproduction purposes. Blood test to test for reduced GALT activity and elevated erythrocyte galactose-1-phosphate count. The child must be on a VERY strict no dairy/lactose diet.
Example of jaudice in babies
What is the prognosis of a patient with the disease and what is the genetic pattern of inheritance - If the disease is caught early, the patient can live a long and healthy life with the diet restrictions and it is a autosomal recessive gene.
What research is being conducted? - There is no current research for treatment found.
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