Galactosemia / Disease

Diseases & Conditions

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Galactosemia

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
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
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: info@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 Review Group
Institute of Child Health
Liverpool None L12 2 AP
Phone #: +44- (0-) 1512525696
800 #: --
e-mail: cfgd@liv.ac.uk
Home page: http://www.liv.ac.uk/cfgd/
Galactosaemia Support Group
31 Cotysmore Road
West Midlands None B75 6BJ
Phone #: N/A
800 #: --
e-mail: sue@gsg1.freeserve.co.uk
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.
1519 Magnolia Bluff
Gautier MS 39553
Phone #: 228-497-5886
800 #: 866-900-7421
e-mail: president@galactosemia.org
Home page: http://www.galactosemia.org
Sj?ldne 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

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html