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Galactosemia Gallstones


Disease condition

Galactosemia is the inability of the body to use (metabolize) the simple sugar galactose (causing the accumulation of galactose 1-phosphate), which then reaches high levels in the body, causing damage to the liver, central nervous system, and various other body systems.

Disease Etiology:

This disease is caused by elevated levels of galactose (a sugar in milk) in the blood resulting from a deficiency of the liver enzyme required for its metabolism (breakdown).

To have the disease, a child must inherit the tendency from both parents. The incidence of the disease is approximately 1:20,000 live births. For each pregnancy, in such a family, there is a 1 in 4 chance a baby will be born with the deficiency.

The disease usually appears in the first days of life following the ingestion of breast milk or formula.

After drinking milk for a few days, a newborn with galactosemia will develop intolerance of feeding, jaundice, vomiting, lethargy, irritability, and convulsions.

The liver will be enlarged and the blood sugar may be low. Continued feeding of milk products to the infant leads to cirrhosis of the liver, cataract formation in the eye (which may result in partial blindness), and mental retardation.


Jaundice (yellowish discoloration of the skin and the whites of the eyes)


Poor feeding (baby refusing to drink milk-containing formula)

Poor weight gain




Hepatomegaly (enlarged liver)

Hypoglycemia (low blood sugar)

Aminoaciduria (amino acids are present in the urine)


Ascites (fluid collects in the abdomen)

Mental retardation

Cataract formation


Prenatal diagnosis by direct measurement of the enzyme galactose-1-phosphate uridyl transferase.

The presence of "reducing substances" in the infant's urine with normal or low blood sugar while the infant is being fed breast milk or a formula containing lactose. A simple test on the urine indicates the presence of a reducing substance, and a specific enzymatic study on the urine can prove the substance to be galactose.

Presence of chemicals, called ketones, in the urine.

Measurement of enzyme activity in the red blood cells.

Blood culture for bacteria infection (E. coli sepsis).

Affected patients have no enzyme activity; carriers (parents) have intermediate enzyme activity (about 1/2 the normal level).

A galactose tolerance test should never be done, as it may be harmful.

Affected infants who ingest galactose will excrete it in large quantities in their urine where it can also be detected. If the infant is vomiting, and not taking milk, the test can be negative. If the disease is suspected, the diagnosis should be confirmed by blood testing.

Treatment – Medical, Surgical

Medical Treatment:

Treatment is based on elimination of galactose from the diet. This may be done in the early neonatal period by stopping breast feeding and by the administration of diets which contain no lactose or galactose.

This diet should be compulsively followed, and continued for years, and possibly for life. The red blood cell levels of galactose or its metabolites (Galactose-l-phosphate) may be used as a monitor to gauge the adherence to the diet and restriction of galactose.

It is also recommended that mothers of affected infants be placed on a galactose-free diet during the subsequent pregnancy.

Life expectancy and Quality of Life

If there is a family history of galactosemia, genetic counseling will help prospective parents make decisions about pregnancy and prenatal testing. Once the diagnosis of galactosemia is made, genetic counseling is recommended for other members of the family.

Parents need to take care and educate the child to avoid not only milk and milk products, but also those foods that contain dry milk products. For this reason, it is essential to read product labels and be an informed consumer.

Because of the potential disastrous side effects of late diagnosis, mandatory neonatal screening programs for galactosemia should be inducted.


Disease condition

Gallstones are clusters of solid material that form in the gallbladder. They are made mostly of cholesterol. Gallstones may occur as one large stone or as many small ones. They vary in size and may be as large as a golf ball or as small as a grain of sand.

Most people with gallstones do not know that they have them and experience no symptoms. Painless gallstones are called silent gallstones. Sometimes gallstones can cause abdominal or back pain. These are called symptomatic gallstones.

It has an alternative name as Cholelithiasis.

Women are twice as likely as men to develop gallstones; the higher prevalence of gallstones in women is thought to be caused by multiple pregnancies, obesity, and rapid weight loss.

Disease Etiology

Gallstones develop in the gallbladder, a small pear-shaped organ beneath the liver on the right side of the abdomen. The gallbladder is about 3 inches long and an inch wide at its thickest part. It stores and releases bile into the intestine to help digestion. Bile is a liquid made by the liver. It contains water, cholesterol, bile salts, fats, proteins, and bilirubin, a bile pigment. During digestion, the gallbladder contracts to release bile into the intestine where the bile salts help to break down fat. Bile also dissolves excess cholesterol.

According to researchers, gallstones may form in one of three ways:

when bile contains more cholesterol than it can dissolve,

when there is too much of certain proteins or other substance in the bile that causes cholesterol to form hard crystals, or

when the gallbladder does not contract and empty its bile regularly

Gallstones are more common in women and people over the age of 40.

Other risk factors include ethnic and hereditary factors, obesity, diabetes, liver cirrhosis, long-term intravenous nutrition, and some operations for peptic ulcers.

Obesity is a strong risk factor for gallstones, especially among women. People who are obese are more likely to have gallstones than people who are ata healthy weight. Body mass index (BMI) can be used to measure obesity in adults.

A BMI of 18.5 to 24.9 refers to a healthy weight, a BMI of 25 to 29.9 refers to overweight, and a BMI of 30 or higher refers to obese.

As BMI increases, the risk for developing gallstones also rises. Studies have shown that risk may triple in women who have a BMI greater than 32 compared to those with a BMI of 24 to 25. Risk may increase sevenfold in women with a BMI greater than 45 compared to those with a BMI less than 24.

Weight-loss dieting increases the risk of developing gallstones. People who lose a large amount of weight quickly are at greater risk than those who lose weight more slowly. Rapid weight loss may also cause silent gallstones to become symptomatic.

Experts believe dieting may cause a shift in the balance of bile salts and cholesterol in the gallbladder. The cholesterol level is increased and the amount of bile salts is decreased.

Following a diet too low in fat or going for long periods without eating (skipping breakfast, for example), a common practice among dieters, may also decrease gallbladder contractions. If the gallbladder does not contract often enough to empty out the bile, gallstones may form.


Gallstones often have no symptoms. However, as many as one-half of all gallstone patients eventually experience one of the following:

Colic -- pain usually occurs after meals when the gallbladder contracts. During this process, gallstones can lodge in the outlet neck of the gallbladder or even in the main bile duct to the intestine. This situation causes intermittent, often severe pain, which is experienced in the upper-middle or right side of the upper abdomen, or even in the right shoulder and, sometimes, under the breast bone. Colic attacks last from a few minutes to several hours.

Gallbladder Inflammation -- Occasionally, the stones irritate the gallbladder to such an extent that active and acute inflammation results. This condition produces steady, dull, and usually severe pain in the upper-right abdomen. This is known as acute cholecystitis. It is a serious condition.

Yellow Jaundice -- When a gallstone becomes permanently lodged in the main bile duct, the bile flow is blocked and cannot reach the intestine. Therefore, bile backs up in the liver and spills into the blood. The skin turns yellow, the urine dark and, perhaps, the stool white, since it is bile that colors the stool brown.

Other Symptoms -- Gallstones are frequently blamed for causing indigestion, nausea, and intolerance to fatty foods. However, it has been found that persons without gallstones experience these symptoms as frequently as those with stones. Therefore, the physician cannot be certain that gallstones are causing these symptoms.

Some common symptoms of gallstones or gallstone attack would include:

severe pain in the upper abdomen that starts suddenly and lasts from 30 minutes to many hours

pain under the right shoulder or in the right shoulder blade

nausea or vomiting

indigestion after eating high-fat foods, such as fried foods or desserts


Treatment – Medical, Surgical

Medical Treatment:

Silent gallstones are usually left alone and sometimes disappear on their own.

Drugs are used to dissolve the gallstones. Bile salt tablets like ursodiol dissolves cholesterol stones over a period of time. The treatment works best on small cholesterol stones. To prevent a recurrence, most people need to take the medication indefinitely.

Surgical Treatment:

Symptomatic gallstones are usually treated. The most common treatment is surgery to remove the gallbladder. This operation is called a cholecystectomy.

Non-Surgical Treatment:

Sound wave therapy (extracorporeal shock wave lithotripsy) is a treatment with high-frequency sound waves to break up gallstones. The patient would be advised to take ursodiol tablets to dissolve the fragments.

Sound wave therapy is appropriate for only a small percentage of people with gallstones. If there is more than one stone, or the stone is large, or patient has acute cholecystitis or cholangitis, then this is not the right treatment.

Life expectancy and Quality of Life

Achieve and maintain ideal body weight but do not lose more than 3 lbs per week, especially using the super low-calorie liquid fasting diets.

Increased fiber in the diet, vitamin C (no more than 500 mg a day) and caffeinated coffee may all be helpful. Additionally, regular recreational and physical activity - vigorous walking, gardening, aerobics - seem to have protective value.