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Copyright 1987, 1990, 1991, 1995, 1999, 2005, 2007
Synonyms of Galactosemia
- Classic Galactosemia
- Galactokinase deficiency
- Galactose-1-Phosphate Uridyl Transferase Deficiency
- Galactose-6-phosphatase emirase deficiency
- GALT Deficiency
Disorder Subdivisions
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.
Organizations related to Galactosemia
- American Liver Foundation
75 Maiden Lane
Suite 603
New York NY 10038
Phone #: 212-668-1000
800 #: 800-465-4837
e-mail: info@liverfoundation.org
Home page: http://www.liverfoundation.org
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Children's Liver Alliance
None
None IN None
Phone #: N/A
800 #: --
e-mail: mail@liverkids.org.au
Home page: http://www.liverkids.org.au
- Cochrane Cystic Fibrosis and Genetic Disorders Group
Institute of Child Health, University of Liverpool
Alder Hey Children's NHS Foundation Trust
Liverpool None L12 2 AP
Phone #: +44- (0-) 151 252 5696
800 #: --
e-mail: nikkij@liverpool.ac.uk
Home page: http://www.cfgd.cochrane.org/en/index.html
- Galactosaemia Support Group
31 Cotysmore Road,
Sutton Coldfield
West Midlands None B75 6BJ
Phone #: N/A
800 #: --
e-mail: sue@galactosaemia.org
Home page: http://www.galactosaemia.org/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: 800-891-5389
e-mail: nddic@info.niddk.nih.gov
Home page: http://www.niddk.nih.gov
- Parents of Galactosemic Children, Inc.
P.O. Box 2401
Mandeville LA 70470-2401
Phone #: N/A
800 #: 800-900-7421
e-mail: president@galactosemia.org
Home page: http://www.galactosemia.org
- Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K None 1220
Phone #: 45 -33 -14 00 10
800 #: N/A
e-mail: mail@sjaeldnediagnoser
Home page: http://www.raredisorders.dk
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