Galactosemia:
Galactosemia is an inherited disorder, where there is inability to convert galactose to glucose in a general way. The incidence of this disease is approximately 1 in 18,000 live births.
Causes:
Enzyme deficiency in galactose metabolic pathway originates the galactosemia. The pathway for translation of galactose to glucose is displayed in the below figure.
Diagram: Metabolism of Galactose
In galactosemia, there is incapability to metabolize galactose that may be caused through the enzyme deficiency of a = galactokinase, b = UDP Galactose 1 - phosphate uridyl transferase.
Symptoms:
The absence of galactose 1-phosphate uridyl transferase is clinically significant. Because of the enzyme defect galactose accumulates in blood and is decreased through aldose reductase in the eye to the corresponding galactitol that causes cataract.
The normal condition is more severe if it is because of a defect in galactose 1 - phosphate uridyl tranferase, because galactose 1-phosphate accumulates and depletes the liver of inorganic phosphate. Finally liver failure and mental deterioration results.
Infants emerge normal at birth but after that they show failure to thrive and become lethargic. They have often vomitting and hypoglycemia. Later than the 2 - 3 months of age the liver might depict fatty infiltration and go ahead to cirrhosis (non functioning of liver cells). Galactosemia at this age is related with mental retardation because of accumulation of galactose and galactose 1-phosphate in cerebral cortex. Thus, the galactosemic child fails to grow up and suffer from liver damage and mental retardation.
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