What is Globoid cell leukodystrophy?

Krabbe disease (also called globoid cell leukodystrophy) is a severe neurological condition. It is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination) in the nervous system.

How is Krabbe disease treated?

There’s no cure for Krabbe disease, and treatment focuses on supportive care. However, stem cell transplants have shown some success in infants who are treated before the onset of symptoms and in some older children and adults.

What is the life expectancy of someone with Krabbe disease?

What is the long-term outlook for people with Krabbe disease? On average, infants who develop Krabbe disease will die before age 2. Children who develop the disease later in life will live a bit longer, but typically die between 2 and 7 years after they’re diagnosed.

What does the GALC enzyme do?

The GALC gene provides instructions for making an enzyme called galactosylceramidase. Through a process called hydrolysis, this enzyme uses water molecules to break down certain fats called galactolipids, which are found primarily in the nervous system and kidneys.

Is Krabbe disease more common in males or females?

About 1 in 100,000 newborn babies in the United States is affected with Krabbe’s Leukodystrophy. Males are affected as often as females.

Is a person born with Krabbe disease?

Krabbe Disease is a genetic, or inherited, disorder and is also classified as an autosomal recessive disorder. This means that if both parents are carriers of the disease, each child they conceive will have a 1 in 4 chance of developing Krabbe.

How is Hunter’s syndrome diagnosed?

A doctor uses several tests to diagnose Hunter syndrome:

1. Urine test: checks for unusually high levels of sugar molecules.
2. Blood tests: can show low or absent levels of enzyme activity, which is also a sign of the disease.
3. Genetic testing: identifies mutations (changes) in the gene to confirm diagnosis.

Can a female have Hunter’s disease?

Hunter syndrome nearly always occurs in males. Girls are far less at risk of developing this disease because they inherit two X chromosomes. If one of the X chromosomes is defective, their normal X chromosome can provide a functioning gene.

What is the life expectancy of a child with Hunter syndrome?

No cure is available for Hunter syndrome. The most severe cases can be life-threatening, with life expectancy typically between 10 and 20 years. People with mild cases of the disease typically live longer into adulthood.

Can Hunter’s syndrome be cured?

There’s no cure for Hunter syndrome. Treatment involves managing symptoms and complications.