Lexic.us

Definition of Galactosemia

1. Noun. A genetic disease (autosomal recessive) in which an enzyme needed to metabolize galactose is deficient or absent; typically develops shortly after birth.

Definition of Galactosemia

1. [n -S]

Medical Definition of Galactosemia

1. A rare genetic (autosomal recessive) disorder characterised by the inability a defect in the enzyme (galactose 1 phosphate uridyl transferase) that converts galactose 1 phosphate into glucose 1 phosphate is absent. Excess galactose 1 phosphate accumulates in the blood and a variety of problems result. Inheritance: autosomal recessive. Origin: Gr. Haima = blood (27 Sep 1997)

Lexicographical Neighbors of Galactosemia

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