Health A-Z

Galactocerebrosidase (GALC) deficiency is a rare inherited metabolic disorder characterized by the deficiency or dysfunction of the GALC enzyme, which plays a crucial role in the breakdown of certain fats (lipids) in the body, particularly in myelin, the protective covering of nerve fibers in the brain and spinal cord. GALC deficiency leads to the accumulation of toxic substances, resulting in progressive damage to the nervous system. GALC deficiency is also known as Krabbe disease. Here's an overview of symptoms, treatment plans, and diagnosis/testing for GALC deficiency.

1. Neurological Symptoms: Symptoms typically begin in early infancy or childhood and may include irritability, muscle weakness, poor feeding, failure to thrive, and developmental delay.
2. Motor Dysfunction: As the disease progresses, individuals may experience muscle stiffness (spasticity), muscle weakness, difficulty controlling movements (ataxia), and impaired coordination.
3. Vision Loss: Some individuals with GALC deficiency may develop optic atrophy, leading to vision loss.
4. Seizures: Seizures may occur in some cases, particularly as the disease advances.
5. Regression: Developmental regression, loss of acquired skills, and cognitive decline may occur in affected individuals.
6. Peripheral Neuropathy: Damage to the peripheral nerves may cause sensory disturbances, such as numbness or tingling in the hands and feet.
7. Other Symptoms: Additional symptoms may include feeding difficulties, irritability, hearing loss, and respiratory problems.

1. Supportive Care: There is currently no cure for GALC deficiency. Treatment focuses on managing symptoms and providing supportive care to improve quality of life.
2. Physical Therapy: Physical therapy can help maintain mobility, prevent contractures, and improve muscle strength and coordination.
3. Occupational Therapy: Occupational therapy can help individuals with GALC deficiency learn adaptive techniques for daily activities and improve fine motor skills.
4. Speech Therapy: Speech therapy may be beneficial for individuals with speech and swallowing difficulties.
5. Nutritional Support: Nutritional support, including feeding assistance and supplementation, may be necessary to address feeding difficulties and ensure adequate nutrition.
6. Symptom Management: Medications may be prescribed to manage symptoms such as seizures, spasticity, and pain.

1. Newborn Screening (in some regions): GALC deficiency may be included in newborn screening programs in certain regions, allowing for early detection and intervention.
2. Enzyme Activity Assay: Definitive diagnosis is confirmed by measuring GALC enzyme activity in white blood cells or other tissues. Reduced GALC enzyme activity is indicative of GALC deficiency.
3. Genetic Testing: Genetic testing can identify mutations in the GALC gene responsible for GALC deficiency, confirming the diagnosis and providing information about the inheritance pattern.
4. MRI and CT Scans: Brain imaging studies, such as magnetic resonance imaging (MRI) and computed tomography (CT) scans, may reveal characteristic abnormalities in the brain, such as white matter changes and atrophy.
5. Nerve Conduction Studies: Nerve conduction studies may be performed to assess nerve function and detect abnormalities in peripheral nerve conduction.