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Galactosemia

National Organization for Rare Disorders, Inc.

Important

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.

Synonyms

  • Galactose-1-Phosphate Uridyl Transferase Deficiency
  • GALT Deficiency
  • Classic Galactosemia
  • Galactokinase deficiency
  • Galactose-6-phosphatase emirase deficiency

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). Galactose is converted to glucose by a series of three enzyme reactions. The disorder is caused by a deficiency of an enzyme known as "galactose-1-phosphate uridyl transferase" which is vital to this process.



Galactosemia may also be referred to as classic galactosemia because a few variants of the gene for galactosemia have been identified. One variant causes a milder form of the disorder known as Duarte galactosemia. Classic galactosemia is the most severe form.



Because milk is the staple of an infant's diet, early diagnosis and treatment of this disorder is absolutely essential to avoid serious lifelong disability.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, CW2 6BG

United Kingdom

Tel: 4408452412173

Fax: 4408452412174

Email: enquiries@climb.org.uk

Internet: http://www.CLIMB.org.uk



American Liver Foundation

39 Broadway, Suite 2700

New York, NY 10006

USA

Fax: (212)483-8179

Tel: (800)465-4837

Email: http://www.liverfoundation.org/contact/

Internet: http://www.liverfoundation.org



NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison

Bldg 31, Rm 9A06

31 Center Drive, MSC 2560

Bethesda, MD 20892-2560

Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Internet: http://www2.niddk.nih.gov/



Galactosemia Foundation

P.O. Box 2401

Mandeville, LA 70471

Tel: (866)900-7421

Email: outreach@galactosemia.org

Internet: http://www.galactosemia.org



Galactosaemia Support Group

31 Cotysmore Road

Sutton Coldfield

West Midlands, B75 6BJ

United Kingdom

Tel: 01213785143

Email: sue@galactosaemia.org

Internet: http://www.galactosaemia.org/



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

Email: nikkij@liverpool.ac.uk

Internet: http://cfgd.cochrane.org



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Canadian Families with Galactosemia

5 Bayview Ave.

Dundas

Ontario, L9H 4W8

Canada

Tel: 9056288251

Email: janice_hughes@hotmail.com

Internet: http://www.canadianfamilieswithgalactosemia.com



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  7/23/2007

Copyright  1987, 1990, 1991, 1995, 1999, 2005, 2007 National Organization for Rare Disorders, Inc.

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