| galactosaemia | <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 (27 Sep 1997) |
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| galactokinase deficiency galactosaemia | An autosomal recessive disorder resulting in an accumulation of galactose and galactitol. (05 Mar 2000) |
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| transferase deficiency galactosaemia | An autosomal recessive disorder in which there is a deficiency of galactose-1-phosphate uridylyltransferase (see main entry for galactosaemia). (05 Mar 2000) |
| epimerase deficiency galactosaemia | An inborn error in metabolism in which there is a deficiency of uridine diphosphate galactose 4-epimerase; galactose 1-phosphate accumulates. (05 Mar 2000) |