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Krabbe Disease |
Diffuse Globoid Body Sclerosis; Galactosylceramidase Deficiency Disease; Galactosylceramide lipidosis; galactosylcerebrosidase deficiency; galactosylsphingosine lipidosis; GALC deficiency; globoid cell leukodystrophy (GCL, GLD); globoid cell leukoencephalopathy; late-onset Krabbe disease (LOKD); psychosine lipidosis |
Krabbe disease is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase (GALC). This enzyme deficiency results in defective myelin, the covering that insulates many nerves. Krabbe disease is considered part of a group of disorders known as leukodystrophies, which result from the imperfect growth and development of myelin. Krabbe disease usually begins before the age of 1 year (early-onset form). Initial signs and symptoms often include feeding difficulties, episodes of unexplained fever, stiff posture, and developmental delay. As the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and mental retardation. Less commonly, onset can occur in later in childhood, adolescence, or adulthood (late-onset form).
... Krabbe disease is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase (GALC). This enzyme deficiency results in defective myelin, the covering that insulates many nerves. Krabbe disease is considered part of a group of disorders known as leukodystrophies, which result from the imperfect growth and development of myelin.
Krabbe disease usually begins before the age of 1 year (early-onset form). Initial signs and symptoms often include feeding difficulties, episodes of unexplained fever, stiff posture, and developmental delay. As the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and mental retardation. Less commonly, onset can occur in later in childhood, adolescence, or adulthood (late-onset form). ...
Krabbe disease (also known as globoid cell leukodystrophy or galactosylcera ...
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From the EAST traditional·alternative |
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Krabbe Disease Other1-2 of 3 more...
Krabbe Disease
... Synonym(s): Globoid Cell Leukodystrophy What is Krabbe Disease? Krabbe disease is a rare, degenerative disorder of the central and peripheral nervous systems that is characterized by the pr...
Source: Cleveland Clinic
Krabbe Disease Information Page ... Krabbe disease is a rare, degenerative disorder of the central and peripheral nervous systems that is characterized by the presence of globoid cells (cells that have more than one nucleus) in demyelin...
Source: National Institute of Neurological Disorders and Stroke
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Krabbe Disease Articles
- Krabbe disease
... Krabbe disease is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase (GALC). This enzyme deficiency results in ... - Krabbe Disease Information Page
... Krabbe disease is a rare, degenerative disorder of the central and peripheral nervous systems that is characterized by the presence of globoid cells (cells that have more than one nucleus) in demyelin...
Resources
- Genetics Home Reference: Krabbe disease (Genetics Home Reference)
- Globoid Cell Leukodystrophy (National Institute of Neurological Disorders and Stroke)
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