National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Galactosemia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Galactose-1-Phosphate Uridyl Transferase Deficiency
- Transferase Deficiency Galactose
- GALT Deficiency
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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CLIMB (Children Living with Inherited Metabolic Diseases)
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Cochrane Cystic Fibrosis and Genetic Disorders Group
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Galactosaemia Support Group
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- Website: http://www.galactosaemia.org/
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NIH/National Institute of Diabetes, Digestive & Kidney Diseases
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
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Last Updated: 1/5/1970
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