GALC : galactosylceramidase
Understanding the Role of the GALC Gene and Its Impact on Brain Health
Description
The GALC gene holds the blueprint for producing an enzyme called galactosylceramidase. This enzyme plays a critical role in breaking down specific fats known as galactolipids, which are essential components of the nervous system and kidneys.
Associated Diseases
Defects in the GALC gene can lead to severe genetic disorders that affect the brain and other organs. The most common of these diseases is Krabbe disease, a fatal neurodegenerative disorder that affects infants. Krabbe disease is characterized by a buildup of toxic galactolipids in the brain, leading to severe neurological damage and premature death. Other related disorders include:
- Morquio B disease
- Metachromatic leukodystrophy
- Globoid cell leukodystrophy
Did you Know ?
Approximately 1 in 100,000 newborns worldwide is affected by Krabbe disease, making it a rare but devastating condition.
