GALACTOCEREBROSIDASE DEFICIENCY

SYMPTOMS

The severity and symptoms of galactocerebrosidase deficiency differ greatly. People who acquire this condition in the future might have milder symptoms than those infants who develop the disease. 

Furthermore, in the early onset of the disease, infants may experience:

• Vomiting
• Excessive irritability
• Partial unconsciousness
• Difficulty swallowing
• Unexplained fever

They could also be hypersensitive to noises, making them easily frightened. Also, the legs are occasionally tightly stretched at the knee and hip. The fingers, toes, and ankles might be flexed. 

Moreover, in the late onset of the disease, adolescents and older children may experience:

• Inability to control voluntary movements
• Eyesight loss that worsens
• Muscle tightness in the legs that happens gradually

DIAGNOSIS

In diagnosing galactocerebrosidase deficiency, a physical exam will be performed by your doctor to check for symptoms. Also, he/she will get a sample of the skin tissue or blood to send for lab testing. 

The presence of GALC enzyme activity in the sample can be determined in the laboratory. If the child’s GALC activity is exceedingly low, he or she may have galactocerebrosidase deficiency.

To confirm the diagnosis, the following tests may be used:

• Amniocentesis
• Imaging tests such as MRI
• Eye examination
• Nerve conduction studies
• Genetic testing

TREATMENT

There is still no treatment that can change the course of galactocerebrosidase deficiency in infants who have already developed symptoms. As a result, treatment is focused on symptom management and giving supportive care.

Moreover, the following are the interventions for the disease:

• Physical therapy
• Anticonvulsant medications
• Nutritional support
• Drugs to alleviate irritability and muscle spasticity
• Occupational therapy 
• Stem cell transplantation