B3GALTL

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Title: b3galtl: The Enzyme Behind a Complex Genetic Condition

Description:

b3galtl (beta-1,3-galactosyltransferase-like) is an enzyme that plays a crucial role in glycosylation, the process of adding sugar molecules to proteins. Mutations in the b3galtl gene can lead to a rare genetic condition known as b3galtl deficiency. This condition affects the nervous system and can cause a range of symptoms, including intellectual disability, movement disorders, and seizures.

Associated Diseases:

The primary disease associated with b3galtl deficiency is b3galtl deficiency syndrome. This condition is characterized by a wide range of symptoms, including:

• Intellectual disability
• Speech and language difficulties
• Movement disorders (such as tremors, ataxia, and dystonia)
• Seizures
• Behavioral problems (such as aggression, self-injury, and hyperactivity)
• Vision and hearing problems
• Growth retardation

Did you Know ?

b3galtl deficiency syndrome is a rare condition, affecting approximately 1 in 100,000 people worldwide.