GALACTOCEREBROSIDE BETA-GALACTOSIDASE DEFICIENCY

Overview and Facts

Galactocerebroside beta-galactosidase deficiency or Krabbe disease is a hereditary illness that causes nerve cells in the brain and across the nervous system to lose their protective coating (myelin). This disease commonly manifests itself in babies before they reach the age of six months, and the condition usually leads to death by the age of two.

The condition can manifest itself in various ways in adults and children. Moreover, galactocerebroside beta-galactosidase deficiency has no cure. Hence, the only treatment is supportive care. Stem cell transplants, on the other hand, have shown some promise in newborns treated before the beginning of symptoms, as well as in certain older children and adults.

Types and Symptoms

SYMPTOMS

Galactocerebroside beta-galactosidase deficiency symptoms commonly appear between 2 to 5 months. They begin gradually and progressively worsen.

Infants

Early on in the course of the condition, common signs and symptoms include:

  • Having trouble eating
  • Sudden crying
  • Irritability
  • Decrease in alertness
  • Fever
  • Muscle spasms
  • Frequent vomiting
  • Loss of head control
  • Delayed in developmental stages

Signs and symptoms get increasingly severe as the disease advances. Some are:

  • Fixed, stiff posture
  • Loss of developmental capabilities
  • Constricted, rigid muscles
  • Seizures
  • Progressive loss of sight and hearing

Adults and Older Children

When galactocerebroside beta-galactosidase deficiency strikes later in childhood or adulthood, the signs and symptoms can vary. Some are:

  • Progressive vision loss
  • Walking difficulties
  • Manual dexterity loss
  • Muscle weakness
  • Impaired thinking skills

Furthermore, it progresses more quickly and is more likely to result in death the younger the patient is when it first appears.

Diagnosis & Medications

DIAGNOSIS

Your doctor will perform a general physical examination and look for signs and symptoms of a neurological condition. A set of tests are used to diagnose galactocerebroside beta-galactosidase deficiency, which may include the following:

  • Laboratory tests
  • Newborn screening
  • Imaging tests
  • Nerve conduction study
  • Genetic testing

TREATMENT

There is currently no treatment available to alter the course of galactocerebroside beta-galactosidase deficiency in newborns who have already begun to show symptoms. As a result, treatment focuses on symptom management and providing supportive care. The following are instances of interventions:

  • Anticonvulsant medications
  • Muscle spasticity
  • Nutritional support

Adults and older children with less severe versions of the condition may benefit from the following interventions:

  • Occupational therapy
  • Physical therapy

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