Krabbe disease
Natural Standard Bottom Line Monograph, Copyright © 2009 (www.naturalstandard.com). Commercial distribution prohibited. This monograph is intended for informational purposes only, and should not be interpreted as specific medical advice. You should consult with a qualified healthcare provider before making decisions about therapies and/or health conditions.
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Adult-onset Krabbe disease, central nervous system disorder, CNS, galactocerebrosidase, galactolipids, GALC, GALC gene, GCL, globoid cell leukodystrophy, globoid cells, juvenile Krabbe disease, Krabbe's disease, late infantile Krabbe disease, leukodystrophies, leukodystrophy, myelin, myelin sheath, nerve damage, oligodendrocytes, peripheral nervous system. |
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Krabbe disease, also called globoid cell leukodystrophy (GCL), is a rare, inherited disorder that affects the central nervous system (CNS) and peripheral nervous system. People with Krabbe disease typically have increased muscle tone that causes muscle spasticity and stiffness, impaired motor control, vision problems, seizures, and hearing loss. In many cases, Krabbe disease leads to early death. |
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Krabbe disease is one of several disorders called leukodystrophies. Leukodystrophies are disorders that affect the growth of development of the myelin sheath, the fatty substance that insulates and protects the nerves in the brain and spinal cord. The myelin sheath continues to develop after birth, with the growth rate peaking before 18 months of age. The myelin sheath is completely developed when a person is about 20 years old. When the myelin sheath does not grow or function properly, it leads to nervous system damage. |
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People with Krabbe disease have deficient levels of the enzyme galactosylceramidase and as a result, galactolipids build up to toxic levels in the myelin. This causes oligodendrocytes, the cells that produce myelin, to die. Because the myelin is unable to function properly, the nerve cells in the brain and other parts of the body become damaged and destroyed and symptoms of Krabbe disease develop. |
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Although most people with Krabbe disease develop symptoms before the age of six months, some people may not have noticeable signs of the disease until childhood or adulthood. Based on when symptoms develop, the disease is divided into four major types. Type 1, or infantile Krabbe disease, begins when the infant is three to six months of age. An estimated 85-90% of Krabbe disease cases are classified as type 1. Type 2, or late infantile, typically begins when the baby is six months to three years of age. Type 3, or juvenile Krabbe disease, begins when the child is three to eight years of age. Type 4, or adult-onset Krabbe disease, develops anytime after the age of eight. |
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Content available for subscribers only.
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Content available for subscribers only.
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Content available for subscribers only.
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Content available for subscribers only.
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Content available for subscribers only.
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Content available for subscribers only.
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Content available for subscribers only.
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Content available for subscribers only.
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Natural Standard Monograph
(www.naturalstandard.com)
Copyright © 2009 Natural Standard Inc. Commercial distribution or
reproduction prohibited.
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The information in this monograph is intended for informational purposes
only, and is meant to help users better understand health concerns.
Information is based on review of scientific research data, historical
practice patterns, and clinical experience. This information should not be
interpreted as specific medical advice. Users should consult with a
qualified healthcare provider for specific questions regarding therapies,
diagnosis and/or health conditions, prior to making therapeutic decisions.
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