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Glucose-galactose malabsorption generally becomes apparent in the first few weeks of a baby's life. Affected infants experience severe diarrhea resulting in life-threatening dehydration, increased acidity of the blood and tissues (), and weight loss when fed breast milk or regular infant formulas.
Lactose can not be absorbed by the intestine and needs to be split in the small intestine into galactose and glucose by the enzyme called lactase; unabsorbed lactose can cause abdominal pain, bloating, diarrhea, gas, and nausea. [citation needed] In most mammals, production of lactase diminishes after infants are weaned from maternal milk.
After the ingestion of lactose, most commonly from breast milk for an infant or cow milk and any milk from an animal, the enzyme lactase hydrolyzes the sugar into its monosaccharide constituents, glucose and galactose. In the first step of galactose metabolism, galactose is converted to galactose-1-phosphate (Gal-1-P) by the enzyme galactokinase.
The development of early cataracts in homozygous affected infants is fully preventable through early diagnosis and treatment with a galactose-restricted diet. Some studies have suggested that, depending on milk consumption later in life, heterozygous carriers of galactokinase deficiency may be prone to presenile cataracts at 20–50 years of age.
Infant mammals nurse on their mothers to drink milk, which is rich in lactose. The intestinal villi secrete the enzyme lactase (β-D-galactosidase) to digest it. This enzyme cleaves the lactose molecule into its two subunits, the simple sugars glucose and galactose, which can be absorbed. Since lactose occurs mostly in milk, in most mammals ...
3. Blood glucose measurement Postnatal glucose monitoring is the main method of early detection of neonatal hypoglycaemia. In particular, children at risk of neonatal hypoglycaemia should have their blood glucose monitored within one hour of birth. [citation needed]
In metabolism, the β-glycosidic bond in D-lactose is hydrolyzed to form D-galactose and D-glucose, which can be absorbed through the intestinal walls and into the bloodstream. The overall reaction that lactase catalyzes is as follows: C 12 H 22 O 11 + H 2 O → C 6 H 12 O 6 + C 6 H 12 O 6 + heat. lactose + H 2 O → β-D-galactose + D-glucose
For infants with DG who showed elevated galactose metabolites at diagnosis, this test can be used to see if the child's ability to process galactose has improved. [citation needed] For example, to test galactose metabolism, a baseline Gal-1P level is measured while the child is on a galactose-restricted diet.