galactosaemia definition

<biochemistry> 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

American spelling: galactosemia

(27 Sep 1997)