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1. Overview

Galactosemia is a genetic metabolic disease that is characterized by an inability to utilize the galactose from sugar. In classic galactosemia case, the defect is a deficiency of an enzyme known as GALT.

This causes an accumulation of galactose 1-phosphate that affects the liver, eyes, kidneys and brain. Normally, the doctor will do a galactosemia screening for each newborn because if not detected this disease can be fatal. Identified, the disease can be treated by avoiding galactose in the diet.

Galactosemia is inherited as an autosomal recessive trait. There are two forms of the disease: GALT deficiency (classic galactosemia) and galactokinase deficiency. Comparing the two types of this disease, the first is more severe. GALT gene is found in chromosome 9p13 is.

People suffering from galactosemia cannot metabolize galactose from sugar. Galactose is derived mainly from sugar called lactose that is found in milk composition. Lactose is composed of two sugars: galactose and glucose; they are linked.

If a child that suffers from galactosemia is offered milk, galactose levels increase causing damage to the liver, brain, kidneys and eyes. People suffering from galactosemia cannot tolerate any form of milk or other foods containing galactose. Exposure to dairy products will lead to liver damage, mental retardation, cataracts and kidney failure.


1. Overview
2. Symptoms
3. Investigations
4. Treatment

2. Symptoms

Infants with galactosemia may develop symptoms in the first days of life if they consume milk or milk powder containing lactose. These symptoms may be caused by severe blood infection with the bacterium E-coli and can be:
- Convulsions;
- Irritability;
- Lethargy;
- Child’s refusal to eat milk;
- Insignificant increase in weight;
- Jaundice;
- Vomiting;
- Aminoaciduria;
- Hepatomegaly;
- Ascites;
- Hypoglycemia.

3. Investigations

Immediately after birth, all newborns are screened for this condition. The tests include:
- Blood cultures for detecting bacterial infection (especially E-coli);
- Tests to evaluate enzyme activity in red blood cells;
- Ketones in urine;
- Direct prenatal diagnosis which involves measuring the enzyme galactose-1-phosphate uridyl transferase.

4. Treatment

The only treatment available is strictly limiting galactose from the diet. Sugar (lactose) found in milk is made from glucose and galactose, so that all product containing milk should be avoided. Infants will be fed with soy formula or lactose-free milk.

Generally, a patient who suffers from galactosemia will not consume products containing milk, butter, cheese, dry milk, cream, buttermilk, cream, margarine, chocolate milk, casein and whey. In addition, it will limit the consumption of certain fruits and vegetables, fermented soy products, organs (liver, heart, kidney, pancreas), protein hydrolysates from meat, legumes and monosodium glutamate.

Some medications and supplements have a coating containing galactose or lactose, so read them prospectus carefully or will ask the pharmacist for further details.



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