Galactosaemia

Galactosaemia

(Science: 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

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