Galactosemia

Galactosemia is one of those medical conditions which a newborn may inherit from his parent(s). What basically happens in this genetic disease is that an enzyme (known as galactose-1-phosphate uridyl transferase or GALT), which assists digestion or metabolism of galactose (a form of simple sugar in the blood stream and commonly found in milk and milk related products), is deficient or absent. This deficiency leads to the accumulation of galactose in the blood stream of the newborn, as he continues to intake milk or milk related products.

Is it curable?

Galactosemia, sadly, cannot be cured. It is usually categorized in three forms namely:

Galactose 1 (the most common form),
deficiency of galactose kinase, and
deficiency of galactose 6 phosphate epimrase.

This condition typically develops shortly after the birth and it is for this reason, that certain babies (whose parents are affected with such disease) should invariably be tested for this incurable medical condition, instantly, to ensure the prevention of any serious symptoms of this condition.

Quite commonly, the tests are carried out by obtaining a sample of blood from the baby’s heel, to check for the low levels of GALT. For parents who have just found out about it, may be advised to take genetic counseling services and regular follow up with a metabolic disease specialist, to ensure necessary precautions.

Preemptive tests:

In the instance where the parents or the doctor are aware of this condition in the family of the newborn, then a preemptive test could be done by checking the fluid sample from the fetus or the fetal cells from the placenta, during the pregnancy stage.

Other tests may also be carried out, depending on the condition of the baby, such as blood culture for bacteria infection (E.coli), enzyme activity in red blood cells and ketones in the urine. Such tests should reveal certain signs (low blood sugar count (hypoglycemia), fluid in the abdomen (ascites), liver enlargement (hepatomegaly) or presence of amino acids in urine or blood plasma (aminoaciduria), leading to the diagnosis of a form of Galactosemia.

Milk Intolerance:

It is vital to note that infants who suffer from this medical condition are intolerant to milk (formula or breast fed) or related products and it is imperative that parents are cautious in avoiding such products (particularly by religiously reading the product labels of all consumable items for the infants), for life.

Infants with this problem will usually rely on soya formula, meat based formula, nutramigen, any other lactose free formula and calcium supplements. Any recklessness may potentially have a damaging effect on the liver, brain (leading to delayed speech development or mental retardation), kidneys or eyes of the newborn.

And in case this wasn't enough a scary read, let me add here that its other complications in the future may include irregular menstrual periods and even malfunctioning of the ovaries leading to ovarian failure.

Symptoms:

Newborn babies affected with this medical condition can show certain symptoms during the initial few days from the time of their birth (after having consumed any form of lactose based milk), such as convulsions, irritability, lethargy, refusal to feed, lack of weight gain, vomiting or jaundice in newborns.

As mentioned above, Galactosemia is not curative. Infants who are timely diagnosed with this condition and follow a strict diet (as discussed above) usually lead a relatively normal life. Having said that, moderate disability relating to intellect may, nevertheless, develop.

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