Galactosemia
Galactose is a sugar obtained from the hydrolysis of lactose (natural milk sugar) and its function is purely energetic, the main carbohydrate being responsible for the formation of the antigen of blood group B.
When a high concentration of this monosaccharide occurs in the bloodstream, due to a disorder of its metabolism, caused by the deficiency of enzymatic activity or deficiency of liver function, it is called galactosemia.
Its origin is conditioned by an autosomal recessive gene, affecting one of 60,000 live births.
Can be classified in:
- Type 1 — Most common and most severe form caused by deficiency of galactose-1-P uridyl transferase (Galt). The complete absence of this enzyme is called classical galactosemia and the patients with this form when they are not treated properly can present renal and hepatic problems, cataract, neurological problems and early ovarian insufficiency.
- Type 2 — The defect appears in the enzyme galactokinase, which results in the accumulation of galactose, presenting as outstanding characteristics the ocular problems.
- Type 3 — Caused by the defect of the enzyme uridil diphosphate galactose-4-epimerase, is rare.
- Other types — Benign and asymptomatic.
Signals and symptons:
- Diarrhea.
- Vomiting.
- Irritability.
- Lethargy.
- Low weight gain.
- Jaundice.
- Ascites.
- Hepatomegaly.
- Hypoglycemia.
The diagnosis is made by the physician through history, physical examination and by enzymatic testing, demonstrating that galactose-1-P uridyl transferase activity is absent or at very low levels in erythrocytes in the case of classical galactose.
During prenatal care can be performed through amniocentesis, with culture of fibroblasts of the amniotic fluid.
Know more:
- The galactose tolerance test is contraindicated as it may be fatal in patients with galactosemia.
- The treatment is done through a food control.
“She’s diagnosed through the little foot test.” If left untreated, it can cause problems in the baby’s liver, kidneys, eyes, and central nervous system.
Foods to Avoid:
- Milk, cheese, yogurt, curds, curd, cream;
- Butter and margarine containing milk as an ingredient;
- Whey; Ice cream; Chocolate;
- Fermented soy sauce;
- chickpeas;
- Viscera of animals: kidneys, heart, liver;
- Processed or canned meats, such as sausages and tuna, since they usually contain milk or milk proteins as an ingredient;
- Hydrolyzed milk protein: usually found in canned meats and fish, and in protein supplements;
- Casein: milk protein added in some foods like ice cream and soy yogurt;
- Milk-based protein supplements, such as lactalbumin and calcium caseinate;
- Monosodium glutamate: additive used in industrialized products such as tomato sauce and hamburger;
- Products containing prohibited foods such as cake, milk loaf and hot dog as ingredients.
- Baby with galactosemia can not be breastfed, should only use soy milk or soy based milk formulas.
- At the stage where solid foods are introduced diet, you should inform friends, family and school about the baby’s food so that it does not eat food with galactose.
- Read all packagings and food labels, making sure they do not contain galactose.
