What are the Causes of Krabbe Disease?

By  ,  Onlymyhealth editorial team
Dec 17, 2014

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Quick Bites

  • Protective coating of nerve gets destroyed.
  • Signs develop in infants usually.
  • The condition can be fatal
  • Gene alteration causes the condition.

What is Krabbe Disease?

An inherited condition that destroys the protective coating of nerve cells present in the brain and in the entire nervous system is known as Krabbe disease. In majority cases, the signs and symptoms of Krabbe diseases develop in infants before 6 months of age and the condition usually causes death by the age 2. When the condition develops in older children and adults, its course varies largely.

Krabbe Disease Causes

Although there has been no cure for Krabbe disease, the treatment is focused on giving some supportive care. However, the stem cell transplants have shown some success in infants who undergo a treatment before the onset of symptoms and in some older children and adults.

What are the Symptoms of Krabbe Disease?

Usually there are no signs and symptoms of Krabbe disease appear during the first few months of life. They begin gradually and then progressively get worsen.

  • In infant the following symptoms can be seen:
  • Feeding problems
  • Unexplained crying
  • Extreme irritability
  • Fever without infection
  • Decline in alertness
  • Delay in typical developmental milestone
  • Muscle spasms
  • Loss of head control
  • Frequent vomiting

Krabbe Disease Causes


What Causes Krabbe Disease?

The condition occurs when a person inherits two copies of an altered gene, one copy from each parent. A gene gives a kind of blueprint for producing proteins. But when there is an error in this blueprint, the protein product may not work properly. In this condition, two mutated copies of a particular gene lead to little or no production of an enzyme called galactocerebrosidase.

Image courtesy: Getty Images

Read more on Krabbe Disease Causes and Risks.

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