It is considered a metabolic disease, as it consists of an alteration of the intermediary metabolism, responsible for transforming the food we eat into energy and components of our body, which prevents the patient from correctly metabolizing galactose, a lactose sugar.
Galactosemia is a difficult disease to diagnose. It usually manifests in the first weeks of life, and if it is not detected and treated early it is lethal.
Galactosemia is a congenital disease born with it and is for life, and its origin is genetic, that is, that its origin is in an error in the DNA sequence, in a gene of chromosome 9. It is an autosomal disease recessive, -transmissible from parents to children if both parents have the defect, even if they do not express it, and equally affects both men and women.
It is a rare disease; its incidence is approximately 1 in 50,000 people.
Lactose is a sugar made up of two sugars: glucose (which is tolerated by patients with galactosemia) and galactose. In one of the steps of its metabolism is the enzyme galactose 1-phosphate uridyl transferase (G-1-P-UT), and when the enzyme does not exist, there is little, or is defective, the accumulation of the previous metabolites occurs, which are diverted to another pathway, leading to accumulate galactitol. The accumulation of this metabolite in the liver, brain, kidneys and other organs, produces the manifestations of the disease called classical galactosemia. There are other types of galactosemia by alteration of other enzymes, but they are much more infrequent.
Symptoms of galactosemia in the first weeks of life include poor weight gain, repeated vomiting, hypoglycaemia, dehydration, persistent jaundice beyond the first days, renal failure, and neurological symptoms such as difficulty waking up. If galactosemia remains undiagnosed, it causes learning problems, delayed speech and difficulties in speech development. In galactosemia, generalized infection or sepsis by a bacterium called Escherichia coli is typical. Cataracts are also common, even in the first weeks of life, due to the accumulation of metabolites.
Galactosemia may progress in weeks to liver failure. Since the liver is responsible for manufacturing the coagulation factors, bleeding can occur and difficulty in stopping bleeding in case of injury.
The fundamental treatment of galactosemia is the interruption of any food that contains galactose or lactose. This disease is a serious ailment and should not be confused with lactose intolerance, which is a mild condition typical of older children and adults. Infants with galactosemia should be fed with special milks that do not include galactose among its components, usually based on soy. It is one of the few absolute contraindications of breastfeeding.
The prognosis of classical galactosemia is good if treatment is given before the patients are critical. All manifestations, including cataracts, are usually reversible. Without treatment, the prognosis depends on the percentage of enzyme present. Severe galactosemia without treatment is lethal, but there are milder forms that evolve with few symptoms until adulthood.
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