National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Galactosemia is not the name you expected.
Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body's ability to convert galactose (a sugar contained in milk, including human mother's milk) to glucose (a different type of sugar). The disorder is caused by a deficiency of an enzyme galactose-1-phosphate uridyl transferase (GALT) which is vital to this process. Early diagnosis and treatment with a lactose-free diet is absolutely essential to avoid profound intellectual disability, liver failure and death in the newborn period. Galactosemia is inherited as an autosomal recessive genetic condition.
Classic galactosemia and clinical variant galactosemia can both result in life-threatening health problems unless treatment is started shortly after birth.
A biochemical variant form of galactosemia termed Duarte is not thought to cause clinical disease.
American Liver Foundation
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- Website: http://www.liverfoundation.org
CLIMB (Children Living with Inherited Metabolic Diseases)
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Galactosaemia Support Group
- 31 Cotysmore Road
- Sutton Coldfield
- West Midlands, B75 6BJ
- United Kingdom
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- Email: email@example.com
- Website: http://www.galactosaemia.org/
- PO Box 1512
- Deerfield, FL 33443
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- Email: firstname.lastname@example.org
- Website: http://www.galactosemia.org
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
- Office of Communications & Public Liaison
- Bldg 31, Rm 9A06
- Bethesda, MD 20892-2560
- Tel: (301)496-3583
- Email: NDDIC@info.niddk.nih.gov
- Website: http://www2.niddk.nih.gov/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 4/12/2016
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