UDP-Galactose-4-epimerase deficiency
UDP-Galactose-4-Epimerase Deficiency[edit | edit source]
UDP-Galactose-4-Epimerase Deficiency, also known as GALE deficiency, is a rare metabolic disorder that affects the body's ability to properly metabolize galactose, a type of sugar found in milk and other dairy products. This condition is part of a group of disorders known as galactosemia.
Pathophysiology[edit | edit source]
UDP-Galactose-4-Epimerase Deficiency is caused by mutations in the GALE gene, which provides instructions for making the enzyme UDP-galactose-4-epimerase. This enzyme is crucial in the Leloir pathway, which is responsible for converting galactose into glucose, a sugar that the body can use for energy. When this enzyme is deficient or non-functional, galactose accumulates in the body, leading to various symptoms and complications.
Types[edit | edit source]
There are three main types of UDP-Galactose-4-Epimerase Deficiency:
- Generalized GALE Deficiency: This is the most severe form, affecting multiple tissues and leading to significant symptoms.
- Peripheral GALE Deficiency: This form primarily affects red blood cells and white blood cells, with milder symptoms.
- Intermediate GALE Deficiency: This form has symptoms that are between the generalized and peripheral types.
Symptoms[edit | edit source]
The symptoms of UDP-Galactose-4-Epimerase Deficiency can vary depending on the type and severity of the condition. Common symptoms include:
- Poor growth and development
- Liver dysfunction
- Cataracts
- Intellectual disability
- Jaundice
- Hypoglycemia
Diagnosis[edit | edit source]
Diagnosis of UDP-Galactose-4-Epimerase Deficiency typically involves:
- Newborn Screening: Many regions include galactosemia in newborn screening programs.
- Enzyme Activity Assay: Measuring the activity of UDP-galactose-4-epimerase in red blood cells.
- Genetic Testing: Identifying mutations in the GALE gene.
Treatment[edit | edit source]
Management of UDP-Galactose-4-Epimerase Deficiency involves dietary restrictions to limit galactose intake. This typically includes avoiding milk and dairy products. Regular monitoring and supportive care are also important to manage symptoms and prevent complications.
Prognosis[edit | edit source]
The prognosis for individuals with UDP-Galactose-4-Epimerase Deficiency varies depending on the type and severity of the condition. With early diagnosis and appropriate management, individuals can lead relatively normal lives, although some may experience long-term complications.
Research[edit | edit source]
Ongoing research is focused on better understanding the genetic and biochemical basis of UDP-Galactose-4-Epimerase Deficiency, as well as developing improved treatments and management strategies.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
UDP-Galactose-4-epimerase deficiency is a rare disease.
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Contributors: Prab R. Tumpati, MD
