Krabbe Disease
Description
Krabbe disease, also known as globoid cell leukodystrophy, is a rare and devastating genetic disorder that affects the nervous system. It primarily impacts the myelin sheath, a protective coating that surrounds nerve fibers, enabling efficient communication within the brain and throughout the body. This disorder is characterized by the accumulation of toxic substances in the brain and nervous system, leading to progressive neurological decline and ultimately, death.
Genes Involved
Krabbe disease is caused by mutations in the GALC gene, which is responsible for producing the enzyme galactosylceramidase. This enzyme is crucial for the breakdown of galactosylceramide, a key component of the myelin sheath. When this gene is mutated, the enzyme cannot function properly, leading to the accumulation of galactosylceramide and the subsequent damage to the myelin sheath.
Recognizing the Signs and Symptoms
The symptoms of Krabbe disease typically emerge within the first few months of life, often starting with irritability, poor feeding, and delayed developmental milestones. As the disease progresses, more severe symptoms develop, including seizures, muscle weakness, and vision and hearing loss. In later stages, children with Krabbe disease may experience paralysis, coma, and respiratory failure.
Causes
Krabbe disease is caused by genetic mutations in the GALC gene, inherited from parents. It is an autosomal recessive disorder, meaning that both parents must carry the mutated gene for their child to be affected.
Inheritance/recurrence risk
If both parents carry the mutated GALC gene, there is a 25% chance for each pregnancy that their child will inherit the disease. If one parent carries the mutated gene, there is a 50% chance that their child will inherit the gene but not develop the disease.
