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Galactosemia
Monday, 18 August 2003
Monday, 09 October 2006
Galactose-1-Phosphate Uridyl Transferase Deficiency, Galactokinase Deficiency, Galactose-6-Phosphate

What

Galactosemia is a rare, hereditary condition in which the body cannot break down galactose, a type of sugar that is produced when lactose from milk is digested. Instead of being broken down, galactose accumulates in the body and causes damage to the liver, eyes, and brain. There are 3 forms of this disease; the most common and severe type involves a deficiency in an enzyme called galactose-1-phosphate uridyl transferase (a.k.a. classic galactosemia).

Who

Galactosemia affects both males and females. This disorder can be first detected in newborn infants after feeding them breast milk or formula for a few days. It occurs in approximately 1 out of 60,000 births in the United States.

Signs and Symptoms

After drinking milk for a few days, newborn infant with galactosemia may have some or all of the following symptoms:

  1. Refusing to drink milk-containing formula.
  2. Jaundice (yellowish discoloration in the skin and whites of the eyes).
  3. Vomiting.
  4. Failure to gain weight.
  5. Constantly feeling tired, or having a low blood sugar.
  6. Irritability.
  7. Diarrhea.
  8. Enlarged liver or liver disease.
  9. Convulsions.
  10. Cataract formation in the eye. Vomiting, jaundice, and liver enlargement are the earlier signs of galactosemia. Early diagnosis is important in preventing liver disease, cataract formation, and mental retardation. Girls with galactosemia have an increased risk for ovarian failure which causes delayed or absence of menstrual period and consequently can produce problems with fertility later in life.

Possible Causes

Galactosemia is an autosomal recessive inherited disorder, which means that individuals will develop the condition only if they inherit 2 affected copies of a gene, one from each of their parents. Individuals with galactosemia are deficient in a liver enzyme (called galactose-1-phosphate uridyl transferase) that is responsible for breaking down galactose. Without this enzyme, galactose cannot be removed by the body. As a result, it will remain in the body and accumulate to high levels. This build-up of galactose causes direct damage to organs such as the liver, brain, eyes, and kidneys.

Diagnosis

Galactosemia can be diagnosed by taking a blood test to determine the levels of the enzyme galactose-1-phosphate uridyl transferase (G-1-PUT) in the blood. Since people with galactosemia are deficient in G-1-PUT, blood tests results for affected individuals would show little or no enzyme present. Most newborns are given a screening test for galactosemia while they are still in the hospital. This test is provided in all states in the United States. Newborns with a positive screening test for galactosemia should be changed immediately to a soy formula until the diagnosis can be confirmed. Molecular genetic testing is available and is used to confirm the diagnosis, detect carriers of galactosemia, and perform prenatal diagnosis.

Treatment

Treatment consists of completely eliminating galactose from the diet. This means that infants with galactosemia should stop breast-feeding and avoid drinking any type of milk-containing product. Instead, they can be fed a soy formula, a specially prepared protein-based formula, or any other lactose-free formula as recommended by a pediatrician or dietician. Calcium supplements are recommended after one year of age.

Prognosis

Children with galactosemia should be followed closely with regular check-ups to make sure their galactose levels are well-regulated. Their doctor should see if they are growing and developing well, and send them to an eye doctor to check for cataracts. The prognosis for children with galactosemia is good if they are diagnosed early and adhere to a strict galactose-free diet. These children can generally lead a relatively normal life. However, despite following the strict diet, some children can have intellectual impairment, and girls may have future problems with fertility.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

American Liver Foundation
Website with information on Galactosemia plus link to a parents page with information about formula, insurance and support.

Galactosemia Resources and Information
Great website with information about galactose in foods, what is safe and unsafe, and links to other informational and support group websites.

Parents of Galactosemic Children, Inc.
Great website with informkation about galactosemia and dietary restrictions as well as support groups for families affected by the condition.

Google Search for Galactosemia

References and Sources

Cotran RS, Kumar V, and Collins T (1999). Pathologic Basis of Disease. W.B. Saunders Company, 6th edition. pp 467-477. MedlinePlus: Galactosemia www.nlm.nih.gov/medlineplus/ency/article/000366.htm American Liver Foundation: Galactosemia www.liverfoundation.org/cgi-bin/dbs/articles.cgi?db=articles&uid=default&ID=1046&view_records=1 Sutton VR. Clinical features and diagnosis of galactosemia. UpToDate Version 14.2, 2006 (on-line information service). Available at: http://www.uptodate.com/index.asp Sutton VR. Management and outcome of galactosemia. UpToDate Version 14.2, 2006 (on-line information service). Available at: http://www.uptodate.com/index.asp