{"id":35972,"date":"2024-06-05T12:28:58","date_gmt":"2024-06-05T10:28:58","guid":{"rendered":"https:\/\/petsvetcheck.de\/krankheiten-und-stoerungen\/hund\/globoidzellen-leukodystrophie-gld-erbliche-erkrankung-der-weissen-substanz-des-gehirns-krabbe-krankheit\/"},"modified":"2026-10-15T14:54:38","modified_gmt":"2026-10-15T12:54:38","slug":"globoid-cell-leukodystrophy-gld-hereditary-disease-of-the-white-matter-of-the-brain-krabbe-disease","status":"publish","type":"krankheit","link":"https:\/\/petsvetcheck.de\/en\/diseases-and-disorders\/dog\/globoid-cell-leukodystrophy-gld-hereditary-disease-of-the-white-matter-of-the-brain-krabbe-disease\/","title":{"rendered":"Krabbe Disease in Dogs (Globoid Cell Leukodystrophy, GLD)"},"content":{"rendered":"","protected":false},"featured_media":0,"template":"","krankheitsort":[142,141],"haufigkeit":[135],"organsystem_krankheiten":[232],"class_list":["post-35972","krankheit","type-krankheit","status-publish","hentry","krankheitsort-ruecken-schwanz-en","krankheitsort-kopf-hals-en","haufigkeit-c-en","organsystem_krankheiten-nervous-system","entry"],"acf":{"synonyme":"","synonyme_en":"Krabbe Disease","titel_en":"Globoid Cell Leukodystrophy (GLD)","weitere_suchbegriffe":"","triage":"yellow","triage_begruendung":"Hereditary white matter disease in puppies; early diagnosis, mostly only supportive therapy.","definition":"Globoid Cell Leukodystrophy (GLD), also known as Krabbe disease, is a hereditary neurological disorder in dogs that leads to progressive damage to the white matter of the brain and spinal cord. This condition is characterized by the absence or dysfunction of a specific enzyme crucial for the normal myelination of nerve fibers. ","ursachen":"Globoid Cell Leukodystrophy is a lysosomal storage disease caused by a deficiency of the enzyme galactocerebrosidase (GALC). This enzyme is responsible for breaking down certain fats called galactolipids, which are an essential component of the myelin sheath. The myelin sheath is the protective covering that surrounds nerve fibers and is necessary for the proper transmission of nerve impulses. \n\nIn the absence of the functional GALC enzyme, galactolipids accumulate, especially psychosine, which is toxic to oligodendrocytes, the cells that produce myelin. The result is demyelination, leading to a disruption of nerve conduction and neuronal dysfunction. \n\nThe cause of the absence or malfunction of the GALC enzyme is genetic. GLD is inherited as an autosomal recessive trait. This means that a dog must inherit two copies of the defective gene\u2014one from each parent\u2014to develop the disease. Carriers, who have only one copy of the defective gene, do not show symptoms but can pass the disease on to their offspring. ","auswahl_symptome_rot":[33685,33214,34206],"auswahl_symptome_blau":[33579,34207,8910,33597,33428],"auswahl_symptome_grun":[33545,34174],"erganzungen_zu_symptomen":"The symptoms of globoid cell leukodystrophy vary depending on the severity and progression of the disease but often appear at a young age. The first signs include weakness and instability, especially in the hind legs, which can lead to an unsteady, staggering gait. \n\nAs the disease progresses, neurological symptoms such as tremors, muscle spasms, Blindness, and cognitive impairments occur. Dogs may have Difficulty standing or walking and often show Behavioral changes such as increased Irritability or lethargy. \n\nIn advanced stages, complete Paralysis, Convulsions, and loss of cognitive abilities may occur. Symptoms generally worsen rapidly, leading to a significant decline in quality of life. ","zusammenfassung":"Globoid Cell Leukodystrophy (GLD), also known as Krabbe disease, is a genetic condition in dogs caused by a deficiency of the enzyme galactocerebrosidase (GALC). This enzyme is responsible for breaking down certain fats in the myelin sheath that surrounds nerve fibers. Without functional GALC enzyme, toxic substances accumulate, leading to damage to the myelin sheath and neurological disorders. The disease is inherited in an autosomal recessive manner, meaning a dog must inherit two defective genes to be affected. Symptoms often appear in young dogs and include tremors, uncoordinated gait, muscle atrophy, and in some cases, Paralysis or epilepsy-like seizures. Diagnosis is made through clinical observations, genetic tests, and biochemical analyses. Imaging techniques such as MRI can show the extent of the damage. There is no cure; therapies aim to alleviate symptoms and improve quality of life, for example, through medication and physiotherapy. Bone marrow transplants are rare and risky. The prognosis is poor, as the disease progresses rapidly and often leads to Death. Prevention through genetic tests and responsible breeding practices is crucial. Research approaches focus on gene therapies and enzyme replacement therapies to offer better therapy options in the future. ","diagnose":"The diagnosis of Globoid Cell Leukodystrophy is based on a combination of clinical signs, genetic tests, and specific biochemical analyses. GLD may be suspected in young dogs with the described neurological symptoms, especially in breeds predisposed to the disease. \n\nGenetic tests can be performed to confirm the presence of the defective GALC gene. These tests are crucial for diagnosis, as they help identify carriers and affected dogs. Biochemical tests to measure GALC enzyme activity in white blood cells or skin cells can also be performed to support the diagnosis. \n\nImaging techniques such as MRI can be used to assess the degree of demyelination and damage to brain structures. A definitive diagnosis can be achieved through a combination of these methods. ","behandlung":"Currently, there is no cure for globoid cell leukodystrophy, and treatment focuses primarily on relieving symptoms and supporting the quality of life of the affected dog. This may include administering medications to control Convulsions and muscle spasms, as well as physical therapy to support mobility. \n\nIn some cases, a bone marrow transplant may be considered to support the production of the missing enzyme. However, this therapy is invasive, expensive, and carries significant risks, which is why it is rarely used. \n\nResearch into genetic therapies and enzyme replacement therapies is ongoing, but these approaches are still in experimental stages and are not currently widely available.","prognose":"The prognosis for dogs with Globoid Cell Leukodystrophy is unfortunately poor. The disease progresses rapidly and usually leads to severe disability and Death within a few months of the onset of the first symptoms. The quality of life for affected dogs deteriorates rapidly, often necessitating humane euthanasia. \n\nWhile early detection of the disease can help alleviate symptoms and improve quality of life in the short term, it ultimately does not change the progression of the disease.","ausblick_auf_aktuelle_forschung":"Globoid Cell Leukodystrophy (GLD), also known as Krabbe disease, is a genetic condition that affects the nervous system of dogs. Research into GLD in dogs focuses on understanding the genetic basis, developing diagnosis methods, and testing new therapy approaches. The main focus is on studying the mutations in the GALC gene, which is responsible for producing the enzyme galactocerebrosidase. This enzyme plays a crucial role in breaking down certain lipids in the nervous system. \n\nA significant advance in research is the development of genetic tests that make it possible to identify carriers of the disease and diagnose affected dogs early. These tests are particularly important for breeders as they help prevent the spread of the disease through selective breeding programs. The identification of the genetic markers for GLD has helped to deepen the understanding of the disease mechanisms and to define specific therapeutic goals. \n\nCurrent research projects also focus on developing gene therapies to correct or replace the defective GALC gene. In preclinical studies on animal models, gene therapy approaches have shown promising results, including extending lifespan and improving neurological functions in affected animals. These approaches involve the use of viral vectors to deliver the corrected gene directly into the nervous system. \n\nFurthermore, research is being conducted on the development of enzyme replacement therapies, where the missing or defective enzyme is supplied externally to alleviate the symptoms of the disease. Although these therapies are currently still in the experimental phase, they could represent a valuable addition to existing therapy strategies in the future. \n\nResearch centers worldwide are also working on developing new drugs that could slow down or prevent the degeneration of nerve cells. These drugs aim to inhibit the inflammatory processes associated with the Death of oligodendrocytes, the cells that form the myelin sheath in the brain. These inflammatory processes contribute significantly to the progression of the disease. \n\nAnother focus of research is on improving the quality of life for dogs with GLD. This includes the development of supportive therapies that promote the mobility and general well-being of the animals. Physiotherapy, nutritional adjustments, and the use of aids can help improve the quality of life for affected dogs. \n\nIn summary, research into GLD in dogs is steadily progressing and has yielded promising approaches for the therapy and management of the disease. Advances in genetic and molecular research offer hope for more effective therapies and a better future for affected dogs. ","zusatzlicher_inhalt_im_hauptteil":"Since Globoid Cell Leukodystrophy is genetic, the key to prevention lies in genetic screening and responsible breeding practices. Dogs that are carriers of the defective gene should not be used for breeding to prevent the transmission of the disease. \n\nBreeders should perform genetic tests on potential parents to ensure that they are not carriers. This can help minimize the risk of puppies being born with the disease. \n\nEducation and genetic counseling can also play an important role in raising awareness of the disease and reducing the spread of the defective gene in the population.","haufig_gestellte_fragen_faqs":"
    \n \t
  1. What is globoid cell leukodystrophy in dogs?<\/b> Globoid Cell Leukodystrophy, also known as Krabbe disease, is a hereditary condition that affects the white matter of the brain in dogs. It is caused by a genetic mutation that leads to a deficiency of the enzyme galactocerebrosidase, resulting in an accumulation of harmful substances in the nervous system. <\/li>\n \t
  2. Which breeds are most commonly affected?<\/b> The disease occurs more frequently in certain breeds, including West Highland White Terriers, Cairn Terriers, and Irish Setters. However, other breeds can also be affected. It is important that breeders conduct genetic tests to minimize the risk of the disease. <\/li>\n \t
  3. How is the disease diagnosed?<\/b> The diagnosis of Globoid Cell Leukodystrophy is usually made through genetic tests that detect the presence of mutations in the GALC gene. Early diagnosis is crucial to implement appropriate therapy measures. <\/li>\n \t
  4. What symptoms does a dog with GLD show?<\/b> The most common symptoms include movement disorders, Muscle weakness, coordination problems, and Behavioral changes. In the advanced stage, Convulsions can also occur. The symptoms generally worsen over time. <\/li>\n \t
  5. Is there a cure for GLD?<\/b> Currently, there is no cure for Globoid Cell Leukodystrophy. However, research is actively working on new therapy approaches, including gene therapy and enzyme replacement therapy, to treat the disease or alleviate symptoms. <\/li>\n \t
  6. How is the disease treated?<\/b> Therapy focuses on alleviating symptoms and improving the dog's quality of life. This includes physiotherapy, medication to control Convulsions, and supportive care. In some cases, experimental therapies may be considered. <\/li>\n \t
  7. How can I, as a dog owner, help prevent the disease?<\/b> As a dog owner, you can help prevent the disease by opting for genetic testing and promoting responsible breeding practices. If you want to buy a dog, you should make sure that the breeders have carried out genetic tests. <\/li>\n \t
  8. How long do dogs with GLD live?<\/b> Dogs with GLD unfortunately have a shortened life expectancy. Most affected dogs show symptoms within the first six months, and the disease progresses rapidly, often leading to early Death. However, the exact lifespan can vary. <\/li>\n \t
  9. Can the disease be transmitted to humans?<\/b> No, globoid cell leukodystrophy in dogs is not transmissible to humans. It is a specific genetic disease that only affects certain animals. <\/li>\n \t
  10. Where can I get more information about GLD?<\/b> For more information about Globoid Cell Leukodystrophy, please contact your veterinarian or specialized animal clinics. In addition, many universities and research centers specializing in veterinary genetics offer resources and advice. <\/li>\n<\/ol>","literaturangaben":"
      \n \t
    • Fletcher, T. F., & Kurtz, H. J. (1972). Animal model: Globoid cell leukodystrophy in the dog. The American Journal of Pathology, 66(2), 375\u2013378. <\/li>\n \t
    • Victoria, T., Rafi, M. A., Wenger, D. A., et al. (1996). Cloning of the canine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers. Genomics, 33(3), 457\u2013462. https:\/\/doi.org\/10.1006\/geno.1996.0225<\/li>\n \t
    • Wenger, D. A., Victoria, T., Rafi, M. A., Luzi, P., Vanier, M. T., Vite, C., Patterson, D. F., & Haskins, M. H. (1999). Globoid cell leukodystrophy in Cairn and West Highland White terriers. Journal of Heredity, 90(1), 138\u2013142. https:\/\/doi.org\/10.1093\/jhered\/90.1.138<\/li>\n \t
    • Bradbury, A. M., Bagel, J. H., Jiang, X., Swain, G. P., Prociuk, M. L., Fitzgerald, C. A., O\u2019Donnell, P. A., Braund, K. G., Ory, D. S., & Vite, C. H. (2016). Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (Krabbe disease). Journal of Neuroscience Research, 94(11), 1007\u20131017. https:\/\/doi.org\/10.1002\/jnr.23838<\/li>\n \t
    • Bradbury, A. M., Rafi, M. A., Bagel, J. H., Brisson, B. K., Marshall, M. S., Pesayco Salvador, J., Jiang, X., Swain, G. P., Prociuk, M. L., O\u2019Donnell, P. A., Fitzgerald, C., Ory, D. S., Bongarzone, E. R., Shelton, G. D., Wenger, D. A., & Vite, C. H. (2018). AAVrh10 gene therapy ameliorates central and peripheral nervous system disease in canine globoid cell leukodystrophy (Krabbe disease). Human Gene Therapy, 29(7), 785\u2013801. https:\/\/doi.org\/10.1089\/hum.2017.151<\/li>\n \t
    • Corado, C. R., Liu, Y., et al. (2020). Cerebrospinal fluid and serum glycosphingolipid biomarkers in canine globoid cell leukodystrophy. Orphanet Journal of Rare Diseases, 15, 9. https:\/\/doi.org\/10.1186\/s13023-019-1287-5 <\/li>\n \t
    • Hammack, S., Clark, L. A., et al. (2023). Novel genetic variant associated with globoid cell leukodystrophy in a dog. Journal of Veterinary Internal Medicine, 37(5), 1911\u20131917. https:\/\/doi.org\/10.1111\/jvim.16822<\/li>\n \t
    • Bradbury, A. M., Bagel, J., Swain, G., Miyadera, K., Pesayco, J. P., Assenmacher, C. A., Brisson, B., Hendricks, I., Wang, X. H., Herbst, Z., Pyne, N., O\u2019Donnell, P., Shelton, G. D., Gelb, M., Hackett, N., Szabolcs, P., Vite, C. H., & Escolar, M. (2024). Combination HSCT and intravenous AAV-mediated gene therapy in a canine model proves pivotal for translation of Krabbe disease therapy. Molecular Therapy, 32(1), 44\u201358. https:\/\/doi.org\/10.1016\/j.ymthe.2023.11.014<\/li>\n \t
    • Li, Y., Dong, X., Guo, J., & Lv, Y. F. (2026). Gene therapy for Krabbe disease: Evidence from mouse and canine models. Gene, 980, 149949. https:\/\/doi.org\/10.1016\/j.gene.2025.149949<\/li>\n<\/ul>","symptome_ausgeblendet":"","erganzungen":"","faq":[{"frage":"1. What is Globoid Cell Leukodystrophy in dogs?","antwort":"Globoid cell leukodystrophy, also known as Krabbe disease, is a hereditary condition that affects the white matter of the brain in dogs. It is caused by a genetic mutation that leads to a deficiency of the enzyme galactocerebrosidase, resulting in an accumulation of harmful substances in the nervous system."},{"frage":"2. Which breeds are most commonly affected?","antwort":"The disease occurs more frequently in certain breeds, including West Highland White Terriers, Cairn Terriers, and Irish Setters. However, other breeds can also be affected. It is important for breeders to perform genetic testing to minimize the risk of the disease."},{"frage":"3. How is the disease diagnosed?","antwort":"The diagnosis of globoid cell leukodystrophy is usually made through genetic tests that detect the presence of mutations in the GALC gene. An early diagnosis is crucial for taking appropriate treatment measures."},{"frage":"4. What symptoms does a dog with GLD show?","antwort":"The most common symptoms include movement disorders, muscle weakness, coordination problems, and behavioral changes. In advanced stages, convulsions can also occur. Symptoms generally worsen over time."},{"frage":"5. Is there a cure for GLD?","antwort":"There is currently no cure for globoid cell leukodystrophy. However, research is working intensively on new therapeutic approaches, including gene therapy and enzyme replacement therapy, to treat the disease or alleviate symptoms."},{"frage":"6. How is the disease treated?","antwort":"Treatment focuses on alleviating symptoms and improving the dog's quality of life. This includes physiotherapy, medication to control convulsions, and supportive care. In some cases, experimental therapies may be considered."},{"frage":"7. As a dog owner, how can I help prevent the disease?","antwort":"As a dog owner, you can help prevent the disease by opting for genetic testing and promoting responsible breeding practices. If you are looking to buy a dog, you should ensure that the breeders have performed genetic tests."},{"frage":"8. How long do dogs with GLD live?","antwort":"Unfortunately, dogs with GLD have a shortened life expectancy. Most affected dogs show symptoms within the first six months, and the disease progresses rapidly, often leading to an early death. However, the exact lifespan can vary."},{"frage":"9. Can the disease be transmitted to humans?","antwort":"No, globoid cell leukodystrophy in dogs is not transmissible to humans. It is a specific genetic disorder that only affects certain animals."},{"frage":"10. Where can I find more information about GLD?","antwort":"You can obtain further information about globoid cell leukodystrophy from your veterinarian or specialized veterinary clinics. In addition, many universities and research centers specializing in veterinary genetics offer resources and advice. 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