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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.
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. [1] The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others . In most of the disorders, problems arise due to accumulation of substances which are ...
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.
Guidelines in the UK, however, recommend pre-feed screening of at-risk infants at 2–4 hours of age (to avoid false positives when blood glucose is, ordinarily, at its lowest at 2–3 hours of age) and at the subsequent feed until a blood glucose level of >2.0 mmol/L (36 mg/dL) on at least two consecutive occasions and is feeding well.
Galactose (/ ɡ ə ˈ l æ k t oʊ s /, galacto-+ -ose, "milk sugar"), sometimes abbreviated Gal, is a monosaccharide sugar that is about as sweet as glucose, and about 65% as sweet as sucrose. [2] It is an aldohexose and a C-4 epimer of glucose. [3] A galactose molecule linked with a glucose molecule forms a lactose molecule.
The treatment for galactosemic cataract is no different from general galactosemia treatment. In fact, galactosemic cataract is one of the few symptoms that is actually reversible. Infants should be immediately removed from a galactose diet when symptoms present, and the cataract should disappear and visibility should return to normal. [12]