General Information for Families
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.
Galactosemia is an inherited disorder (transmitted as an autosomal recessive trait).
It occurs at a rate of approximately 1 out of 60,000 births. There are 3 forms of
the disease: galactose-1 phosphate uridyl transferase deficiency (classic galactosemia,
the most common and most severe form), deficiency of galactose kinase, and deficiency
of galactose-6-phosphate epimerase.
People with galactosemia are unable to fully break down the simple sugar galactose.
Galactose makes up half of lactose, the sugar found in milk. Lactose is called a
disaccharide (di meaning 2 and saccharide meaning sugar) because it is made up of
two sugars, galactose and glucose, bound together.
If an infant with galactosemia is given milk, derivatives of galactose build up
in the infant's system, causing damage to the liver, brain, kidneys, and eyes. Individuals
with galactosemia cannot tolerate any form of milk (human or animal) and must carefully
watch intake of other galactose-containing foods. Exposure to milk products may
result in liver damage, mental retardation, cataract formation, and kidney failure.
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.
Signs & Symptoms
Symptoms
- Jaundice (yellowish discoloration of the skin and the whites of the eyes)
- Vomiting
- Poor feeding (baby refusing to drink milk-containing formula)
- Poor weight gain
- Lethargy
- Irritability
- Convulsions
Signs and tests
- Hepatomegaly (enlarged liver)
- Hypoglycemia (low blood sugar)
- Aminoaciduria (amino acids are present in the urine)
- Cirrhosis Ascites (fluid collects in the abdomen)
- Mental retardation
- Cataract formation
Tests include:
- 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).
Treatment
Once the disease is recognized, treatment consists of strictly avoiding all milk
and milk-containing products. The infant can be fed with soy formula, meat-base
formula, or Nutramigen (a protein hydrolysate formula), or other lactose-free formula.
The condition is lifelong and requires abstinence from milk and milk products for
life.
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.
Source: Medicine Plus
What are amino acid disorders?
Amino acid disorders (AA disorders) cause the body to have problems breaking down
certain proteins. The body breaks down, or metabolizes, food. The food is changed
into nutrients they body can use, and the body gets rid of the chemicals it does not need. Enzymes (chemicals that do jobs in the body) usually help break down food.
A person who has an AA disorder is missing a specific enzyme, or the enzyme is not working as well as it should. This prevents the body from breaking down protein
in food, and toxic chemicals build up in the body. The build up of toxic chemicals
can cause serious damage to organs. Each enzyme deficiency causes a different AA
disorder. A special diet and medication can prevent most problems.
What causes AA disorders?
AA disorders are inherited when both parents pass an abnormal AA gene to their child. This means both parents are carriers of a particular AA disorder. Carriers do not experience any health problems related to the AA disorder. When two carriers of a particular AA disorder have children together, there is a 1 in 4 (25%) chance for each baby to have the AA disorder.
How are AA disorders detected?
Newborn screening is done on tiny samples of blood taken from the infant’s heel 24-48 hours after birth. After a positive newborn screen, testing at special labs must be done to know for sure if a baby has an AA disorder.
What problems can AA disorders cause?
An AA disorder is different for each child. Untreated AA disorders can cause vomiting,
eye problems, liver problems, mental retardation, and possibly coma or death. It is extremely important to follow the doctor’s instructions about caring for a child with an AA disorder.
What is the treatment for AA disorders?
AA disorders can be treated. People with AA disorders should not eat certain proteins
that the body has trouble breaking down. Medication may help the body get rid of
harmful toxins. The treatment is life-long. For children who have an AA disorder:
- The child should have a primary care doctor, a pediatric metabolic specialist, and a dietician. These health professionals give the child good medical care and educate the family about the special diet.
- Families are taught to read labels carefully when shopping for food.
- Treatment for an AA disorder is lifelong, and a child with an AA disorder should see a doctor regularly.
Source: Minnesota Newborn Screening Program
Galactosemia Prevalence by State
The Region 4 Newborn Screening Data, summarized annually, provides detailed data on newborn screening results within Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio and Wisconsin. It is provided here to: assist families and physicians in knowing the relative number of confirmed annual cases for the disorder within each state and how it compares to other states in the region. assist families and specialists across states in connecting with specialists who may have experience treating a specific rare disorder. It is important to note that ongoing developments in the sophistication of technology allows states to progressively increase the number of disorders they screen in their program.
| 2005 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 175659 | 85570 | 144509 | 124942 | 70934 | 71058 | 52222 | 724894 |
| GALT: Transferase Deficient Galactosemia | 5 | 2 | 7 | 4 | 2 | 4 | 2 | 26 |
| Galactosemia due to UDP-galactose 4-epimerase (GALE) deficiency | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| Galactosemia due to galactokinase (GALK) deficiency | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Galactosemia due to galactose-1-phosphate uridyltransferase (GALT) deficiency | 17 | 38 | 40 | 0 | 0 | 5 | 0 | 100 |
| 2004 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 177603 | 87942 | 142023 | 134103 | 66625 | 70579 | 50930 | 729805 |
| GALT: Transferase Deficient Galactosemia | 0 | 0 | 0 | 2 | 0 | 1 | 1 | 4 |
| Galactosemia due to UDP-galactose 4-epimerase (GALE) deficiency | 2 | 1 | 0 | 0 | 0 | 0 | 0 | 3 |
| Galactosemia due to galactokinase (GALK) deficiency | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Galactosemia due to galactose-1-phosphate uridyltransferase (GALT) deficiency | 10 | 24 | 0 | 27 | 0 | 0 | 10 | 71 |
| 2003 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 182590 | 86382 | 151983 | 130937 | 70053 | 70157 | 55281 | 747383 |
| GALT: Transferase Deficient Galactosemia | 2 | 0 | 0 | 1 | 2 | 0 | 0 | 5 |
| Galactosemia due to UDP-galactose 4-epimerase (GALE) deficiency | 0 | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| Galactosemia due to galactokinase (GALK) deficiency | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Galactosemia due to galactose-1-phosphate uridyltransferase (GALT) deficiency | 14 | 57 | 0 | 0 | 0 | 0 | 15 | 86 |
| 2002 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 180622 | 84618 | 148720 | 129967 | 68560 | 68025 | 54233 | 734745 |
| GALT: Transferase Deficient Galactosemia | 4 | 0 | 0 | 6 | 0 | 0 | 2 | 12 |
| Galactosemia due to UDP-galactose 4-epimerase (GALE) deficiency | 0 | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
| Galactosemia due to galactokinase (GALK) deficiency | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| Galactosemia due to galactose-1-phosphate uridyltransferase (GALT) deficiency | 8 | 70 | 0 | 0 | 0 | 0 | 6 | 84 |
