Galactokinase and

In a manner similar to fmctose, some individnals have a genetic defect in one of the enzymes involved in galactose metaholism and consumption of galactose hy these individnals can be detrimental to their health. The most common defect in galactose metabolism is with galactokinase, and not with the epimerase. 

Reaction (1) is irreversible the enzyme galactokinase has been found in mammalian liver, brain, and erythrocytes, as well as in certain yeasts and other microorganisms. UDPGal, the main product of reaction (2), is the intermediate by means of which the body incorporates galactose into cerebrosides and, probably, other galactolipids, mucopolysaccharides, and lactose galactose-l-phosphate uridyl transferase occurs in the liver, to a lesser extent in red cells, and probably in other tissues. 

It would appear that the specific action of an enzyme upon its substrate is conditioned by a definite chemical structure and spatial arrangement of the constituent polar and non-polar groups of the enzyme protein as well as by the constitution and configuration of the substrate. In some cases an enzyme interacts with one chemical compound only. For example, galactokinase extracted from Saccharomyces fragilis (grown on whey) catalyzes the transphosphorylation between adenosine triphos-... 

Once transported into tissues, galactose is phosphorylated (galactokinase), trapping it in the cell. Galactose 1-phosphate is converted to glucose 1-phosphate by galactose 1-P uridyltrans-ferase and an epimerase. The pathway is shown in Figure 1-12-5 important enzymes to remember are ... 

Elevated in deficiencies of galactokinase, galactose-1-phosphate uridyltransferase (classical galactosemia), UDP galactose-4-epimerase, and Fanconi-Bickel-syn drome, portocaval shunt, and cirrhosis, depending on time after lactose consumption. 

T14. Severity of Clinical Symptoms Due to Enzyme Deficiency The clinical symptoms of two forms of galactosemia—deficiency of galactokinase or of UDP-glucose galactose 1-phosphate uridylyltransferase— show radically different severity. Although both types produce gastric discomfort after milk ingestion, deficiency of the transferase also leads to liver, kidney, spleen, and brain dysfunction and eventual death. What products accumulate in the blood and tissues with each type of enzyme deficiency Estimate the relative toxicities of these products from the above information. 

GALACTOKINASE DEFICIENCY This causes galactosemia and galactosuria. 

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