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Galactosemia is a rare genetic metabolic disorder which affects an individual's ability to properly digest the sugar galactose. Lactose in food (such as dairy products) is broken down by the body into glucose and galactose. Normally, galactose is then converted into glucose by the enzyme GALT (galactose-1-phosphate uridylyltransferase). In individuals with galactosemia, GALT activity is severely diminished, leading to toxic levels of galactose to build up in the blood, resulting in hepatomegaly (an enlarged liver), renal failure, cataracts, and brain damage. Without treatment, mortality in infants with galactosemia is about 75%. more...

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Goppert first described the disease in 1917. Its incidence is about 1 per 47,000 births (classic type). It is much rarer in Japan.


There are two variants of the gene responsible for galactosemia.

  • One variant causes so-called classic galactosemia, in which there is an extreme deficiency in galactose-1 phosphate uridyltransferase. It is an autosomal recessive condition. The gene for GALT was mapped at 9p13. Most serious conditions are prominant.
  • The variant gene, responsible for Duarte galactosemia, leads to about half the normal levels of GALT. Individuals with Duarte galactosemia may experience few or none of the serious symptoms of classic galactosemia.

The severity of the symptoms is dependent on a number of factors, most importantly the amount of lactose in the individual's diet. It is also possible to have one each of the classic and Duarte genes, in which case GALT activity is intermediate.


Infants are now routinely screened for galactosemia in the United States, these diagnoses are often made early.


The only treatment for classic galactosemia is eliminating lactose and galactose from the diet. Even with an early diagnosis and a restricted diet, however, some individuals with galactosemia experience long-term complications such as learning disability, and in girls, ovarian failure. Such complications have not been associated with Duarte galactosemia, and many individuals with Duarte galactosemia do not need to restrict their diet at all.

Galactosemia is sometimes confused with lactose intolerance, but the galactosemia is a more serious condition. Lactose intolerant individuals have an acquired or inherited shortage of the enzyme lactase, and experience abdominal pains after ingesting dairy products, but no long-term effects. In contrast, a galactosemic individual who consumes galactose can cause permanent damage to their bodies.


  • Goppert F. Galaktosurie nach Milchzuckergabe bei angeborenem, familiaerem chronischem Leberleiden. Klin Wschr 1917;54:473-477.


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A mentally retarded baby is forever - galactosemia can be prevented with early treatment
From Saturday Evening Post, 1/1/84 by Cory SerVaas

State legislature are important because they can pass laws that change people's lives.

I can't think of a more drastic change in a young women's life than to become the mother of a mentally retarded child, when for a few cents a day, that child, if treated in the first days or weeks of life, could have developed a normal brain.

All but a few of our states have passed laws that require all babies to have a heel prick with a droplet of blood drawn to test whether the child may have hypothyroidism.

One ouf of 4,000 infants born in the United States is found to have hypothyroidism. For a pittance, the infant is given a readily available thyroid hormone that will allow its brain to grow normally. It is estimated thatnearly 100 percent of hypothyroid infants treated at one month will have normaly mental development, compared to 80 percent treated at three months and less than 40 percent after four months. Several studies have shown that roughly 50 percent of brain growth occurs in the first six months of life. Untreated hypothyroidism in this time period has disastrous complications in the baby's brain.

Yet there are no symptoms, and there is nothing about the pregnancy of the healthy mother who bears a hypothyroid baby to give even a clue that the baby will not develop normally. No doctor can tell by physical examination. The most experienced pediatrician cannot tell.

At birth, this baby does everything that a normal, healthy baby is supposed to do. There are no sympotoms--not a single sign.

But in the laboratory the facts contained in the baby's blood are swiftly apparent. The blood shows that the thyroid hormone is missing. The blood sample can be a little, dried spot of blood smaller than your fingerprint. Dried blood can be transported across the country on blotter paper. It doesn't have to be kept fresh. But that sample can change the course of a child's life and certainly the life of the child's mother as well.

Obviously, no infant in this civilized country should be permitted to grow up mentally retarded from his highly preventable cause. A small amount of thyroud hormone replacement given orally every day allows the infant's brain to grow and function normally.

The only remaining states that do not have the mandatory testing law are Virginia, Mississippi, Nebraska and Hawaii. These states have voluntary programs for screening their newborns, but they are not mandatory. Virginia has passed a law requiring hypothyroid screening that will be in effect on July 1, 1984.

Another preventable cause of mental retardation is phenylketonuria (PKU). PKU is the inability of the infant to metabolize the amino acid phenyalanine, an amino acid present in protein that accumulates in the blood. By decreasing this amino acid in the diet during the infant's rapid-brain-growth period, mental retardation can be avoided. Testing for PKU is mandatory in every state except Mississippi.


The test that The Saturday Evening Post Society wants to crusade for at this time another enzyme deficiency test that can be easily detected--from the same drop of blood already mandatorily drawn from the baby for the PKU and hypothyroid tests. The next most common cause of preventable mental retardation is galactosemia, which simply means galactose in the blood. Galactose is a milk sugar that needs an enzyme to convert it into glucose; otherwise the galactose accumulates dangerously in the blood. If the baby doesn't have the enzyme, it will be fine as long as it isn't fed galactose. The only natural source of galactose is primarily in dairy products, so the baby should be taken off milk immediately or, ideally, never be started on milk. If milk feeding os continued, the baby will notr only become mentally retarded, but will die at an early age.

In one typical family the first child, a boud, died from what was presumed to be pneumonia at one month of age. Unfortunately, at the time their second child, a girl, was born, her state, California, did not yet require routine screening for galactosemia. The baby failed to gain weight and was sent for extensive testing. Galactosemia was finally diagnosed when she was one month old. The disease process was arrested then as all dairy products were removed from her diet, but damage from one month's lost time left her with cirrhosis (hardening) of the liver and cataracts, along with some learning disabilities. At ten she is having difficulty learning to read. Her mother hopes screening will soon be mandatory in all states. She says, "I don't think a parent should have to go through the loss of a child in order to save the next one."

"One third to one half of the families that have a galactosemic child eventually diagnosed have already had one infant die with a disease that, in retrospect, at autopsy or clinically, looked like galactosemia," said Dr. Richard Koch, Professor of Clinical Pediatrics at the U.S.C. School of Medicine and Head of the Division of Medical of Los Angeles. I asked him how many galactosemic patients were being discovered. "We're running about one in 40,000 here in California," he replied. "It is slightly more common in Dutch and Northern European groups. Galactosemia occurs in blacks at about the average incidence." In discussing the cost, Dr. Koch said, "All you have to do is find one patient, and it pays for all the screening."

The best way to get a law passed requring that all newborns be tested for galactosemia in your state is to write to your own state representative and state senator asking them to introduce a bill.

In California the incidence of galactosemia has been about one in 40,000. If your state has 400,000 births a year and it doesn't screen for galactosemia, you could be sure of saving ten children from mental retardation and death--if you could get the mandatory testing law put into effect.

You can make a difference.

COPYRIGHT 1984 Saturday Evening Post Society
COPYRIGHT 2004 Gale Group

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