Maladie de Krabbe

Overview of Krabbe Disease

Krabbe Disease is also known as globoid cell leukodystrophy, is a rare and often fatal inherited condition that affects the nervous system. It is caused by the deficiency of an important enzyme due to a mutation in the GALC gene, which leads to the buildup of harmful substances in the brain and spinal cord. These substances damage the protective myelin sheath surrounding nerves, leading to severe neurological symptoms. The disease usually appears in infants, although later-onset forms can occur.

Types of Krabbe Disease

• Infantile Krabbe Disease: The most common and severe form, appearing within the first 6 months of life.
• Late-onset Krabbe Disease: Can appear in older children, teens, or adults, with a slower progression.
• Juvenile Krabbe Disease: Symptoms emerge between ages 3 and 10, with moderate progression.

Symptoms of Krabbe Disease

Developmental delays or regression in infants

Muscle stiffness and spasms

Feeding difficulties and irritability

Vision loss and blindness

Seizures in advanced stages

Loss of head control and difficulty in movement

Breathing complications as disease progresses

Causes of Krabbe Disease

Mutation in the GALC gene, responsible for producing the enzyme galactocerebrosidase

Deficiency of this enzyme leads to toxic buildup of psychosine, which destroys myelin

Inherited in an autosomal recessive pattern, both parents must be carriers

Complications in Krabbe Disease

Progressive brain damage

Severe muscle weakness and paralysis

Vision and hearing loss

Seizures that may be difficult to control

Respiratory failure in advanced stages

Early death in most infantile cases

Risk Factors of Krabbe Disease

Family history of Krabbe or globoid leukodystrophy

Consanguineous marriages increasing the risk of autosomal recessive disorders

Parents carrying GALC gene mutations

Preventions of Krabbe Disease

Genetic counseling for couples with a family history

Carrier screening before conception

Prenatal genetic testing for early detection in pregnancies at risk

Awareness in populations with higher incidence of GALC mutations