Galactosemia is considered a metabolic disease, since 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 itself in the first weeks of life, and if it is not detected and treated in time, it is lethal.
Galactosemia is a congenital disease that is born with it and is for life, and its origin is genetic, that is, its origin is in an error in the DNA sequence, in a gene on chromosome 9.
It is an autosomal recessive disease, transmissible from parents to children if both parents have the defect even if they do not express it, and it affects men and women in the same way. 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 galactosemia patients do tolerate) 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 quantity, or it is defective, the accumulation of previous metabolites occurs , which are diverted to another pathway, leading to accumulation of galactitol. The accumulation of this metabolite in the liver, brain, kidneys and other organs produces the manifestations of the disease called classic galactosemia. There are other types of galactosemia due to alteration of other enzymes, but they are much rarer.
Symptoms of galactosemia in the first weeks of life include poor weight gain, repeated vomiting, hypoglycemia, dehydration, persistent jaundice beyond the first few days, kidney failure, and neurological symptoms such as difficulty waking up. If galactosemia remains undiagnosed, it causes learning disabilities, language delay, and speech development difficulties. Generalized infection or sepsis by a bacterium called Escherichia coli is typical in galactosemia. Cataracts are also common, even in the first weeks of life, due to the accumulation of metabolites.
Galactosemia can progress over weeks to liver failure.
Since the liver is responsible for manufacturing coagulation factors, bleeding and difficulty in stopping bleeding can occur in case of injury.
The fundamental treatment of galactosemia is the discontinuation 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 special milk that does not include galactose among its components, usually soy-based. It is one of the few absolute contraindications to breastfeeding.
The prognosis of classic galactosemia is good if treatment is given before patients are critical. All manifestations, including cataracts, are usually reversible. Without treatment, the prognosis depends on the percentage of enzyme present. Untreated severe galactosemia is fatal, but there are milder forms that progress with few symptoms into adulthood.
