What is krabbe leukodystrophy

A higher incidence 6 cases per 1, people has been reported in a few isolated communities in Israel. This gene provides instructions for making an enzyme called galactosylceramidase, which breaks down certain fats called galactolipids.

One galactolipid broken down by galactosylceramidase, called galactosylceramide, is an important component of myelin. Breakdown of galactosylceramide is part of the normal turnover of myelin that occurs throughout life.

Another galactolipid, called psychosine, which is formed during the production of myelin, is toxic if not broken down by galactosylceramidase.

GALC gene mutations severely reduce the activity of the galactosylceramidase enzyme. As a result, galactosylceramide and psychosine cannot be broken down. Excess galactosylceramide accumulates in certain cells, forming globoid cells. The accumulation of these galactolipids causes damage to myelin-forming cells, which impairs the formation of myelin and leads to demyelination in the nervous system.

Without myelin, nerves in the brain and other parts of the body cannot transmit signals properly, leading to the signs and symptoms of Krabbe disease. This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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This content does not have an Arabic version. Overview Krabbe KRAH-buh disease is an inherited disorder that destroys the protective coating myelin of nerve cells in the brain and throughout the nervous system. Request an Appointment at Mayo Clinic. Autosomal recessive inheritance pattern Open pop-up dialog box Close. Autosomal recessive inheritance pattern To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent.

Share on: Facebook Twitter. Show references Kliegman RM, et al. Neurodegenerative disorders of childhood. In: Nelson Textbook of Pediatrics. Philadelphia, Pa. Accessed April 1, Langan TJ. Krabbe disease. Swaiman KF, et al. Lysosomal storage diseases. In: Swaiman's Pediatric Neurology. Genetics Home Reference. Early and late outcomes after cord blood transplantation for pediatric patients with inherited leukodystrophies. Journal of Neuroimaging.

Wright MD, et al. Graf WD. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information. Treatment Treatment. Treatment of Krabbe disease is focused on managing the symptoms and providing support.

Hematopoietic stem cell transplantation i. The outcome of a stem cell transplant for people with Krabbe disease differs based on the age at diagnosis and the severity and presence of symptoms before the transplant. Statistics Statistics.

Do you have updated information on this disease? Find a Specialist Find a Specialist. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. You can also learn more about genetic consultations from MedlinePlus Genetics. Related Diseases Related Diseases. Conditions with similar signs and symptoms from Orphanet. Differential diagnosis includes metachromatic leukodystrophy, GM1 gangliosidosis, GM2 gangliosidosis, Canavan disease, encephalopathy due to prosaposin deficiency, X-linked adrenoleukodystrophy, Pelizaeus-Merzbacher disease and Alexander disease see these terms.

Visit the Orphanet disease page for more information. Research Research. Clinical Research Resources ClinicalTrials. Click on the link to go to ClinicalTrials. Please note: Studies listed on the ClinicalTrials. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study. Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Patient Registry The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities. Organizations Organizations. Organizations Supporting this Disease. Organizations Providing General Support.

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Learn More Learn More. Where to Start MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

This website is maintained by the National Library of Medicine. Click on the link to view information on this topic. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them. In-Depth Information GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.

Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. PubMed is a searchable database of medical literature and lists journal articles that discuss Krabbe disease. Click on the link to view a sample search on this topic. Have a question?

References References. Krabbe Disease. Jain M, De Jesus O. Clinical characteristics of patients with Krabbe disease: quantitative natural history modeling based on published cases.. Genet Med. Oct ; 21 10 Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. Orphanet J Rare Dis. Feb 1 ; 13 1 Do you know of a review article?