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)
