Galactokinase (EB) (EDTA blood (eb))

Specimens:	5 ml EDTA blood (eb)
Method:	Photometric assay
Set-up:	on demand
Duration:	10 days
Indication/Significance:	Diagnostic assessment of a liver dysfunction in new-borns at the end of the first week of life (accumulation of galactose-1-phosphate when fed with milk) Control of the metabolic adjustment (galactose-1-phosphate in erythrocytes is suitable, for example)
Interpretation:	Elevated values for free more… Elevated values for free galactose or for galactose-1-phosphate as well as low enzyme activity are consistent with a clinically manifested galactosaemia. The activity of galactose-1-phosphate uridyltransferase in patients with classical galactosaemia is usually < 2 % of the standard. When fed with milk, a severe liver dysfunction develops by the end of the first week of life as a result of the accumulation of toxic metabolites (galactose-1-phosphate). With a lactose-free diet, the acute symptoms rapidly disappear. In the long-term, however, chronic damage of the CNS and the ovaries may occur despite a permanent lactose-free diet. The cause of this is the endogenous synthesis of galactose. The determination of galactose-1-phosphate in erythrocytes is a control parameter for a good metabolic adjustment. close

sample referred to a partner lab

both sex

Up to 1 year, activity decreases exponentially from 100. From 1 year normal range: 20.0 - 30.0 nmol/min/g Hb Heterozygous range: 8.0 - 13.0 nmol/min/g Hb Pathological range: < 2.0 nmol/min/g Hb