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Clinical Sports Medicine Collection. Davis AT Collection. Davis PT Collection. Murtagh Collection. About Search. Enable Autosuggest. You have successfully created a MyAccess Profile for alertsuccessName. Previous Chapter. Next Chapter. Wenger D. Wenger, David A. Krabbe disease Globoid Cell Leukodystrophy. Valle D. David L. Valle, et al. It affects infants and is characterized by intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death.
Also see testing for suspected inherited disorders of metabolism Initial testing Most inherited disorders of metabolism inborn errors of metabolism are rare, and therefore their diagnosis requires a high index of suspicion.
Because bone marrow or stem cell transplantation effectively delays onset of symptoms, prenatal testing or neonatal screening Screening Tests for Newborns Screening recommendations for newborns vary by clinical context and state requirements. Blood typing is indicated when the mother has type O or Rh-negative blood or when minor blood antigens Merck and Co. From developing new therapies that treat and prevent disease to helping people in need, we are committed to improving health and well-being around the world.
The Manual was first published in as a service to the community. Learn more about our commitment to Global Medical Knowledge. This site complies with the HONcode standard for trustworthy health information: verify here. As a general rule, the younger the age that Krabbe disease occurs, the faster the disease progresses and the more likely it is to result in death. Some people diagnosed during adolescence or adulthood may have less severe symptoms, with muscle weakness as a primary condition.
They may have no impairment of their thinking skills. The early signs and symptoms of Krabbe disease in infancy can indicate any number of diseases or developmental problems. Therefore, it's important to get a prompt and accurate diagnosis if your child is having signs or symptoms of the disease. Signs and symptoms most often associated with older children and adults also are not specific to Krabbe disease and require a timely diagnosis. Krabbe disease is caused when a person inherits two copies of an altered mutated gene — one copy from each parent.
A gene provides a kind of blueprint for producing proteins. If there is an error in this blueprint, then the protein product may not work properly. In the case of Krabbe disease, two mutated copies of a particular gene result in little or no production of an enzyme called galactocerebrosidase GALC. Enzymes, such as GALC , are responsible for breaking down certain substances in a cell's recycling center lysosome. In Krabbe disease, the short supply of GALC enzymes results in the accumulation of certain types of fats called galactolipids.
Galactolipids normally exist in cells that produce and maintain the protective coating of nerve cells myelin. However, an abundance of galactolipids has a toxic effect.
Some galactolipids trigger myelin-forming cells to self-destruct. Other galactolipids are taken up by specialized debris-eating cells in the nervous system called microglia. The process of cleaning up excessive galactolipids transforms these normally helpful cells into abnormal, toxic cells called globoid cells, which promote myelin-damaging inflammation.
The subsequent loss of myelin demyelination prevents nerve cells from sending and receiving messages. To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one mutated gene recessive gene and one normal gene dominant gene for the condition. The gene mutation associated with Krabbe disease only causes the disease if two mutated copies of the gene are inherited.
A disease resulting from two mutated copies is called an autosomal recessive disorder. Genetic testing to understand the risk of having a child with Krabbe disease may be considered in certain situations:.
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