Galactosemia: Management and outcome
- V Reid Sutton, MD
V Reid Sutton, MD
- Professor of Molecular and Human Genetics
- Baylor College of Medicine
- Section Editors
- Sihoun Hahn, MD, PhD
Sihoun Hahn, MD, PhD
- Section Editor — Genetics
- Professor of Pediatrics
- University of Washington School of Medicine, Seattle Children's Hospital
- Elizabeth B Rand, MD
Elizabeth B Rand, MD
- Section Editor — Pediatric Hepatology
- Professor of Pediatrics
- University of Pennsylvania School of Medicine
Galactose is a sugar found primarily in human and bovine milk and milk products as part of the disaccharide lactose. Lactose is hydrolyzed to glucose and galactose by the intestinal enzyme lactase. The galactose then is converted to glucose for use as an energy source (figure 1). Free galactose also is present in some fruits and vegetables, such as tomatoes, Brussels sprouts, bananas, and apples. Altered metabolism of galactose caused by deficient enzyme activity or impaired liver function results in elevated blood galactose concentration and the condition known as galactosemia.
The UK Galactosaemia Steering Group has published recommendations for the management of galactosemia based on evidence and clinical experience . These recommendations, summarized below, should be tailored to the individual patient.
The management and outcome of galactosemia will be discussed here. The clinical features and diagnosis are discussed separately. (See "Galactosemia: Clinical features and diagnosis".)
Management overview — The main goal of long-term treatment of classic galactosemia is to minimize dietary galactose intake. Galactose should be excluded from the diet as soon as galactosemia is suspected.
Other initial care should be provided as needed to treat jaundice, sepsis, and abnormalities of the liver, kidneys, and central nervous system. Supportive therapy typically includes intravenous hydration, antibiotics, and treatment of coagulopathy, although problems usually resolve quickly after dietary treatment is begun.
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- CLASSIC GALACTOSEMIA
- Management overview
- Nutritional therapy
- - Galactose restriction
- - Calcium supplements
- - Other nutrients
- - Biochemical status
- Endogenous galactose synthesis
- - Developmental status
- - Cataract detection
- - Growth
- - Ovarian function
- - Neurodevelopment
- - Ovarian failure
- - Cataracts
- DUARTE VARIANT
- GALACTOKINASE DEFICIENCY
- URIDINE DIPHOSPHATE GALACTOSE 4-EPIMERASE DEFICIENCY
- SUMMARY AND RECOMMENDATIONS