Galactose metabolism galactosemia

P8. Fesch, L. A., Segal, S., and Topper, Y. J., Progesterone effects on galactose metabolism in prepubertal patients with congenital galactosemia and in rats main-tamed on high galactose diets. J. Clin. Invest. 39, 178-184 (1960). 

I It is physiologically unimportant 1 in galactose metabolism unless j galactose levels are high (as in galactosemia). 

Erin Galway has galactosemia, which is caused by a deficiency of j galactose 1-phosphate uridylyltransferase it is one of the most common genetic diseases. Galactosemia is an autosomal recessive disorder of galactose metabolism that occurs in about 1 in 60,000 newborns. Approximately two... 

D-Galactose Hydrolysis of lactose. Can be changed to glucose in the liver and metabolized. Synthesized in the mammary gland to make the lactose of milk. A constituent of glycolipids and glycoproteins. Failure to metabolize leads to galactosemia and cataract. 

Schwarz et al. (S10) showed that the erythrocytes of galactosemic subjects accumulated large amounts of galactose-l-phosphate, both in vivo and in vitro. This indicated that the metabolic block in galactosemia occurred at reaction (2) or reaction (3). Kalckar et al. (K7) and Isselbacher et al. (19) later showed that normal erythrocytes contained all 4 enzymes needed for reactions (1), (2), (3), and (4), and that in galactosemia there was virtually complete absence of galactose-l-phos-... 

About 10% of the acid-soluble phosphorus of the red blood cells in galactosemia is accounted for by galactose-l-phosphate. Since all this is derived from adenosine triphosphate by reaction (1), it represents the tying up in a metabolically useless form of a high proportion of the high-energy phosphate of the erythrocyte. Untreated galactosemics have... 

Serious diseases often result from the inability of the T organism to metabolize certain substances that are ingested as nutrients. In such cases the substance accumulates and often causes irreversible harm to the liver or other vital organs. Galactosemia is a disease that results from the inability to convert galactose into glucose. Reference to figure 16.2 shows that three enzymes, a kinase, a transferase, and an epimerase are required for this conversion. In the... 

Figure 5-29. Conversion of galactose to intermediates of glucose metabolism. Galactose 1-phosphate uridyl transferase is deficient in classic galactosemia.

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