NOUN | state | galactosemia | a genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent |
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Meaning | A genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth. | |
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Broader | inborn error of metabolism | Any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism |
Spanish | galactosemia |
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