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It is possible that the main title of the report Galactosemia is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

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.

Supporting Organizations

American Liver Foundation

39 Broadway, Suite 2700
New York, NY 10006
Fax: (212)483-8179
Tel: (800)465-4837

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174

Cochrane Cystic Fibrosis and Genetic Disorders Group

Institute of Child Health, University of Liverpool
Alder Hey Children's NHS Foundation Trust
Liverpool, L12 2 AP
United Kingdom
Tel: 441512525696

Galactosaemia Support Group

31 Cotysmore Road
Sutton Coldfield
West Midlands, B75 6BJ
United Kingdom
Tel: 1213785143

Galactosemia Foundation

PO Box 1512
Deerfield, FL 33443
Tel: (866) 900-7421

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

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 and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

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.

Last Updated:  8/3/2015
Copyright  2015 National Organization for Rare Disorders, Inc.