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.
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
Poor weight gain
Hepatomegaly (enlarged liver)
Hypoglycemia (low blood sugar)
Aminoaciduria (amino acids are present in the
Ascites (fluid collects in the abdomen)
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
Measurement of enzyme activity in the red blood
Blood culture for bacteria infection (E. coli
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,
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
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
Because of the potential disastrous side effects
of late diagnosis, mandatory neonatal screening programs
for galactosemia should be inducted.
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
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.
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
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
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
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.
-- 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.
-- 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.
-- 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
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
nausea or vomiting
indigestion after eating high-fat foods, such as fried
foods or desserts
Treatment – Medical,
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.
Symptomatic gallstones are usually treated. The most
common treatment is surgery to remove the gallbladder.
This operation is called a cholecystectomy.
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.