Krabbe disease

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Krabbe disease (pronounced: /kræb/), also known as Globoid cell leukodystrophy or Galactosylceramide lipidosis, is a rare, often fatal degenerative disorder that affects the myelin sheath, a protective covering of nerve cells in the brain and throughout the nervous system.

Etymology

The disease is named after the Danish neurologist, Knud Krabbe, who first described the condition in 1916. The term "leukodystrophy" comes from the Greek words "leuko" (white), "dys" (abnormal), and "trophe" (nourishment), referring to the abnormal development or maintenance of the white matter (myelin) of the nervous system.

Symptoms

Symptoms of Krabbe disease include irritability, unexplained fever, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. In severe cases, vision loss and hearing impairment may occur.

Causes

Krabbe disease is caused by mutations in the GALC gene. This gene provides instructions for producing an enzyme called galactosylceramidase, which is essential for the normal functioning of the nervous system. Mutations in the GALC gene lead to a deficiency of this enzyme, resulting in the accumulation of certain toxic substances in the brain, which are harmful to myelin-producing cells.

Diagnosis

Diagnosis of Krabbe disease is based on clinical examination, neuroimaging studies, and genetic testing. The definitive diagnosis is confirmed by measuring the activity of the galactosylceramidase enzyme in white blood cells or skin cells.

Treatment

There is currently no cure for Krabbe disease. Treatment is supportive and aimed at managing symptoms. Hematopoietic stem cell transplantation (HSCT) has been shown to slow the progression of the disease if performed early in the course of the disease.

Prognosis

The prognosis for individuals with Krabbe disease varies. Early-onset Krabbe disease, which appears in the first six months of life, has a poor prognosis, with most children not surviving past two years of age. Late-onset forms of the disease, which appear in late childhood or adulthood, progress more slowly and have a better prognosis.

See also

External links

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