Galactosemia type 3
=Galactosemia Type 3 =
Galactosemia Type 3 is a rare genetic disorder that affects the body's ability to process the sugar galactose properly. It is one of the three known types of galactosemia, each caused by a deficiency in a different enzyme involved in the metabolism of galactose.
Overview[edit | edit source]
Galactosemia Type 3 is caused by a deficiency in the enzyme UDP-galactose-4-epimerase (GALE). This enzyme is crucial for the proper conversion of UDP-galactose to UDP-glucose, a necessary step in the Leloir pathway of galactose metabolism.
Symptoms[edit | edit source]
The symptoms of Galactosemia Type 3 can vary widely among individuals, but they often include:
Diagnosis[edit | edit source]
Diagnosis of Galactosemia Type 3 typically involves:
- Newborn screening tests
- Measurement of enzyme activity in red blood cells
- Genetic testing to identify mutations in the GALE gene
Treatment[edit | edit source]
Currently, there is no cure for Galactosemia Type 3. Management of the condition focuses on:
- Dietary restrictions to limit galactose intake
- Regular monitoring of growth and development
- Supportive therapies for any complications
Genetics[edit | edit source]
Galactosemia Type 3 is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated GALE gene, one from each parent, to be affected by the disorder.
Epidemiology[edit | edit source]
Galactosemia Type 3 is extremely rare, with only a few cases reported in the medical literature. The exact prevalence is unknown, but it is considered much less common than Galactosemia Type 1 and Galactosemia Type 2.
See Also[edit | edit source]
,
Classic Galactosemia and Clinical Variant Galactosemia, GeneReviews, 2012, Full text,
,
Galactosemia: The Good, the Bad, and the Unknown, Journal of Cellular Physiology, 2006, Vol. 209(Issue: 3), pp. 701-705, DOI: 10.1002/jcp.20742,
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Galactosemia type 3 is a rare disease.
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