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galactosemia

n. an autosomal recessive disease in which the body is unable to metabolize the sugar galactose, which therefore accumulates in the blood. Untreated, this results in cataracts, jaundice, lethargic and hypotonic behavior, and intellectual disability; the condition is associated with a high infant death rate. Treatment is based on restricted intake of dietary galactose.

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May 26th 2024