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.
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.
CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, CW2 6BG United Kingdom Tel: 4408452412173 Fax: 4408452412174 Email: email@example.com 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: firstname.lastname@example.org Internet: http://www.galactosemia.org
Galactosaemia Support Group 31 Cotysmore Road Sutton Coldfield West Midlands, B75 6BJ United Kingdom Tel: 01213785143 Email: email@example.com 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: firstname.lastname@example.org Internet: http://cfgd.cochrane.org
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: email@example.com Internet: http://www.madisonsfoundation.org
Canadian Families with Galactosemia 5 Bayview Ave. Dundas Ontario, L9H 4W8 Canada Tel: 9056288251 Email: firstname.lastname@example.org Internet: http://www.canadianfamilieswithgalactosemia.com
For a Complete Report
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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.
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 email@example.com
Last Updated: 7/23/2007 Copyright 1987, 1990, 1991, 1995, 1999, 2005, 2007 National Organization for Rare Disorders, Inc.
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