Galactosemia type 2
Galactosemia Type 2[edit | edit source]
Galactosemia Type 2, also known as Galactokinase Deficiency, is a rare genetic disorder that affects the body's ability to process the sugar galactose properly. This condition is one of the three main types of Galactosemia, the others being Galactosemia Type 1 and Galactosemia Type 3.
Etiology[edit | edit source]
Galactosemia Type 2 is caused by mutations in the GALK1 gene, which provides instructions for making the enzyme galactokinase. This enzyme is responsible for the first step in the metabolism of galactose, converting it into galactose-1-phosphate. Mutations in the GALK1 gene lead to a deficiency or absence of galactokinase activity, resulting in the accumulation of galactose in the blood.
Symptoms[edit | edit source]
The symptoms of Galactosemia Type 2 can vary but often include:
- Cataracts, which can develop in infancy or early childhood.
- Elevated levels of galactose in the blood (galactosemia).
- Mild developmental delays in some cases.
Unlike Galactosemia Type 1, Galactosemia Type 2 does not typically cause liver damage or severe systemic complications.
Diagnosis[edit | edit source]
Diagnosis of Galactosemia Type 2 is typically made through:
- Newborn screening tests that detect elevated levels of galactose in the blood.
- Genetic testing to identify mutations in the GALK1 gene.
- Enzyme activity assays to measure galactokinase activity.
Treatment[edit | edit source]
The primary treatment for Galactosemia Type 2 is a galactose-restricted diet. This involves avoiding foods that contain lactose and galactose, such as milk and dairy products. Early dietary intervention can prevent the development of cataracts and other complications.
Prognosis[edit | edit source]
With early diagnosis and appropriate dietary management, individuals with Galactosemia Type 2 can lead normal lives. Cataracts, if present, can often be treated successfully with surgery.
Research[edit | edit source]
Ongoing research into Galactosemia Type 2 includes studies on:
- The development of enzyme replacement therapies.
- Gene therapy approaches to correct the underlying genetic defect.
- Improved dietary management strategies.
See Also[edit | edit source]
==
NIH genetic and rare disease info[edit source]
Galactosemia type 2 is a rare disease.
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