National Organization for Rare Disorders, Inc.
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.
- Galactose-1-Phosphate Uridyl Transferase Deficiency
- GALT Deficiency
- Classic Galactosemia
- Galactokinase deficiency
- Galactose-6-phosphatase emirase deficiency
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)
176 Nantwich Road
Crewe, Intl CW2 6BG
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Children's Liver Alliance
American Liver Foundation
75 Maiden Lane
New York, NY 10038
NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Parents of Galactosemic Children, Inc.
P.O. Box 2401
Mandeville, LA 70470-2401
Galactosaemia Support Group
31 Cotysmore Road,
West Midlands, B75 6BJ
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
Tel: +44 (0) 151 252 5696
Fax: +44 (0) 151 252 5456
Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K, 1220
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
PO Box 241956
Los Angeles, CA 90024
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