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Galactosemia
Important
It is possible that the main title of the report Galactosemiais not the name you expected.
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
Intl
CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
info@climb.org.uk
http://www.CLIMB.org.uk
Children's Liver Alliance
IN
mail@liverkids.org.au
http://www.liverkids.org.au
American Liver Foundation
75 Maiden Lane
Suite 603
New York
NY
10038
USA
Tel: (212)668-1000
Fax: (212)483-8179
800: (800)465-4837
info@liverfoundation.org
http://www.liverfoundation.org
NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda
MD
20892-3570
Tel: (301)654-3810
Fax: (301)907-8906
800: (800)891-5389
nddic@info.niddk.nih.gov
http://www.niddk.nih.gov
Parents of Galactosemic Children, Inc.
1519 Magnolia Bluff
Gautier
MS
39553
Tel: (228)497-5886
Fax: (228)497-5886
800: (866)900-7421
president@galactosemia.org
http://www.galactosemia.org
Galactosaemia Support Group
31 Cotysmore Road
Sutton Coldfield
West Midlands
B75 6BJ
United Kingdom
sue@gsg1.freeserve.co.uk
http://www.galactosaemia.org/
Cochrane Cystic Fibrosis and Genetic Disorders Review Group
Institute of Child Health
Royal Liverpool Children's NHS Trust
Alder Hey Hospital, Eaton Road
Liverpool
L12 2 AP
United Kingdom
Tel: +44 (0) 1512525696
Fax: +44 (0) 1512525456
cfgd@liv.ac.uk
http://www.liv.ac.uk/cfgd/
Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K
1220
Denmark
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
mail@sjaeldnediagnoser
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
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.
WebMD Medical Reference from the National Organization of Rare Disorders
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