In nature, except milk, it containslactoseWe don't have much food.Lactose is broken down into galactose and glucose in the intestine.Galactose is converted into glucose in the liver and then decomposed.Galactose inliverInternal conversion to glucose requires at least three special enzymes.Galactokinase is very active in the liver, and this enzyme defect is closely related to the formation of cataract.
AutosomeThe recessive genetic incidence rate is 1/40000, and the gene of galactokinase is in the long arm of chromosome 17 (17q21-q25). In this disease, galactose accumulates and is reduced to galactose alcohol by bypass, leading toLens fiberPermeability damage.With the intake of galactose or galactose containingcarbohydrateThe most common is the intake of lactose, which develops into cataract at an early stage.Liver and kidney damage and nervous system abnormalities will not occur.
Any child with cataract should consider this diagnosis.If glucose reducing products appear in the urine after the patient ingests a lactose containing diet, it is necessary to quickly and further diagnose whether there is galactose in the blood or urine, and whether there is the absence of galactokinase and whether there is galactose-1-phosphate uridine transferase in red blood cells.Treatment with a galactose free diet.[1]
Identification of galactokinase
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It catalyzes the conversion of galactose to galactose monophosphate, and then further generates UDP glucose and melts it into the glycolysis pathway.In recent years, the role of galactokinase in industrial bacteria has gradually attracted people's attention.For example, the introduction of efficient galactokinase in the modified engineering bacteria can promote the in vivo synthesis of exopolysaccharide S, and EPS is an important raw material for the food industry.Tengchong thermophilic anaerobe is a hot spring microorganism discovered by Chinese scientists in Tengchong, Yunnan. Its genome data shows that it contains a galactokinase gene.Identify the expression product of galactokinase gene under high-temperature conditions, study the high-temperature catalytic activity of the protein, and stimulate the development of galactose metabolism of Tengchong thermophilic anaerobic bacteria to the direction of artificial design, which may create a premise for large-scale production of EPS.[2]
