BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuKrabbe diseaseGloboid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylceramidase deficiencyKrabbe disease is a rare genetic disorder of the nervous system. It is a type of brain disease called leukodystrophy. Causes A defect in the GALC gene causes Krabbe disease. People with this gene defect do not make enough of a substance (enzyme) called galactocerebroside beta-galactosidase (galactosylceramidase).EnzymeEnzymes are complex proteins that cause a specific chemical change. For example, they can help break down the foods we eat so the body can use them....Read Article Now Book Mark Article The body needs this enzyme to make myelin. Myelin surrounds and protects nerve fibers. Without this enzyme, myelin breaks down, brain cells die, and nerves in the brain and other body areas do not work properly.Krabbe disease can develop at various ages:Early-onset Krabbe disease appears in the first months of life. Most children with this form of the disease die before they reach age 2. Late-onset Krabbe disease begins in late childhood or early adolescence. Krabbe disease is inherited, which means it is passed down through families. If both parents carry the nonworking copy of the gene related to this condition, each of their children has a 25% (1 in 4) chance of developing the disease. It is an autosomal recessive disorder.Autosomal recessive disorderAutosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me...Read Article Now Book Mark Article This condition is very rare. It is most common among people of Scandinavian descent. Symptoms Symptoms of early-onset Krabbe disease are:Changing muscle tone from floppy to rigid Hearing loss that leads to deafness Failure to thrive Failure to thriveFailure to thrive refers to children whose current weight or rate of weight gain is much lower than that of other children of similar age and sex....Read Article Now Book Mark Article Feeding difficulties Irritability and sensitivity to loud sounds Severe seizures (may begin at a very early age) SeizuresA seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain. The term ...Read Article Now Book Mark Article Unexplained fevers Vision loss that leads to blindness Vomiting With late onset Krabbe disease, vision problems may appear first, followed by walking difficulties and rigid muscles. Symptoms vary from person to person. Other symptoms may also occur. Exams and Tests Your health care provider will perform a physical exam and ask about the symptoms.Tests that may be done include:Blood test to look for galactosylceramidase levels in white blood cells CSF total protein -- tests the amount of protein in cerebrospinal fluid (CSF) CSF total proteinCSF total protein is a test to determine the amount of protein in cerebrospinal fluid (CSF). CSF is a clear fluid that is in the space around the sp...Read Article Now Book Mark Article Genetic testing for the GALC gene defect MRI of the head MRI of the headA head MRI (magnetic resonance imaging) is an imaging test that uses powerful magnets and radio waves to create pictures of the brain and surrounding...Read Article Now Book Mark Article Nerve conduction velocityNerve conduction velocityNerve conduction velocity (NCV) is a test to see how fast electrical signals move through a nerve. This test is done along with electromyography (EM...Read Article Now Book Mark Article Treatment There is no specific treatment for Krabbe disease.Some people have had a bone marrow transplant in the early stages of the disease, but this treatment has risks. Support Groups More information and support for people with Krabbe disease and their families can be found at:National Organization for Rare Disorders -- rarediseases.org/rare-diseases/leukodystrophy-krabbes/s NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/6844/krabbe-disease United Leukodystrophy Foundation -- ulf.org/ Outlook (Prognosis) The outcome is likely to be poor. On average, infants with early-onset Krabbe disease die before age 2. People who develop the disease at a later age have survived into adulthood with nervous system disease. Possible Complications This disease damages the central nervous system. It can cause:Central nervous systemThe central nervous system is composed of the brain and spinal cord. Your brain and spinal cord serve as the main "processing center" for your entir...Read Article Now Book Mark Article Blindness Deafness Severe problems with muscle tone The disease is usually life-threatening. When to Contact a Medical Professional Contact your provider if your child develops symptoms of this disorder. Go to the hospital emergency room or call 911 or the local emergency number if the following symptoms occur:Seizures Loss of consciousness Loss of consciousnessDecreased alertness is a state of reduced awareness and is often a serious condition. A coma is the most severe state of decreased alertness from whi...Read Article Now Book Mark Article Abnormal posturing Prevention Genetic counseling is recommended for people with a family history of Krabbe disease who are considering having children.Genetic counselingGenetics is the study of heredity, the process of a parent passing certain genes on to their children. A person's appearance, such as height, hair co...Read Article Now Book Mark Article A blood test can be done to see if you carry the gene for Krabbe disease.Prenatal tests (amniocentesis or chorionic villus sampling) can be done to test a developing baby for this condition.AmniocentesisAmniocentesis is a test that can be done during pregnancy to look for certain problems in the developing baby. These problems include:Birth defectsG...Read Article Now Book Mark Article Chorionic villus samplingChorionic villus sampling (CVS) is a test some pregnant women have to screen their baby for genetic problems.Read Article Now Book Mark Article Open ReferencesReferencesKatirji B. Disorders of peripheral nerves. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. Bradley and Daroff's Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 106.Kwon JM. Neurodegenerative disorders of childhood. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 617.Pastores GM, Wang RY. Lysosomal storage diseases. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Principles and Practice. 6th ed. Philadelphia, PA: Elsevier; 2017:chap 41.AllVideoImagesTogRelated Information Enzyme(Special Topic)Autosomal recessive(Special Topic)Failure to thrive(Condition)Seizures(Symptoms)Vision problems(Symptoms)Blindness and vision loss(Symptoms)Movement - uncoordinated(Symptoms)Muscle cramps(Symptoms)Central nervous system(Special Topic) Review Date: 4/24/2023 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. © 1997- All rights reserved. A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.Content is best viewed in IE9 or above, Firefox and Google Chrome browser.
Krabbe diseaseGloboid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylceramidase deficiencyKrabbe disease is a rare genetic disorder of the nervous system. It is a type of brain disease called leukodystrophy. Causes A defect in the GALC gene causes Krabbe disease. People with this gene defect do not make enough of a substance (enzyme) called galactocerebroside beta-galactosidase (galactosylceramidase).EnzymeEnzymes are complex proteins that cause a specific chemical change. For example, they can help break down the foods we eat so the body can use them....Read Article Now Book Mark Article The body needs this enzyme to make myelin. Myelin surrounds and protects nerve fibers. Without this enzyme, myelin breaks down, brain cells die, and nerves in the brain and other body areas do not work properly.Krabbe disease can develop at various ages:Early-onset Krabbe disease appears in the first months of life. Most children with this form of the disease die before they reach age 2. Late-onset Krabbe disease begins in late childhood or early adolescence. Krabbe disease is inherited, which means it is passed down through families. If both parents carry the nonworking copy of the gene related to this condition, each of their children has a 25% (1 in 4) chance of developing the disease. It is an autosomal recessive disorder.Autosomal recessive disorderAutosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me...Read Article Now Book Mark Article This condition is very rare. It is most common among people of Scandinavian descent. Symptoms Symptoms of early-onset Krabbe disease are:Changing muscle tone from floppy to rigid Hearing loss that leads to deafness Failure to thrive Failure to thriveFailure to thrive refers to children whose current weight or rate of weight gain is much lower than that of other children of similar age and sex....Read Article Now Book Mark Article Feeding difficulties Irritability and sensitivity to loud sounds Severe seizures (may begin at a very early age) SeizuresA seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain. The term ...Read Article Now Book Mark Article Unexplained fevers Vision loss that leads to blindness Vomiting With late onset Krabbe disease, vision problems may appear first, followed by walking difficulties and rigid muscles. Symptoms vary from person to person. Other symptoms may also occur. Exams and Tests Your health care provider will perform a physical exam and ask about the symptoms.Tests that may be done include:Blood test to look for galactosylceramidase levels in white blood cells CSF total protein -- tests the amount of protein in cerebrospinal fluid (CSF) CSF total proteinCSF total protein is a test to determine the amount of protein in cerebrospinal fluid (CSF). CSF is a clear fluid that is in the space around the sp...Read Article Now Book Mark Article Genetic testing for the GALC gene defect MRI of the head MRI of the headA head MRI (magnetic resonance imaging) is an imaging test that uses powerful magnets and radio waves to create pictures of the brain and surrounding...Read Article Now Book Mark Article Nerve conduction velocityNerve conduction velocityNerve conduction velocity (NCV) is a test to see how fast electrical signals move through a nerve. This test is done along with electromyography (EM...Read Article Now Book Mark Article Treatment There is no specific treatment for Krabbe disease.Some people have had a bone marrow transplant in the early stages of the disease, but this treatment has risks. Support Groups More information and support for people with Krabbe disease and their families can be found at:National Organization for Rare Disorders -- rarediseases.org/rare-diseases/leukodystrophy-krabbes/s NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/6844/krabbe-disease United Leukodystrophy Foundation -- ulf.org/ Outlook (Prognosis) The outcome is likely to be poor. On average, infants with early-onset Krabbe disease die before age 2. People who develop the disease at a later age have survived into adulthood with nervous system disease. Possible Complications This disease damages the central nervous system. It can cause:Central nervous systemThe central nervous system is composed of the brain and spinal cord. Your brain and spinal cord serve as the main "processing center" for your entir...Read Article Now Book Mark Article Blindness Deafness Severe problems with muscle tone The disease is usually life-threatening. When to Contact a Medical Professional Contact your provider if your child develops symptoms of this disorder. Go to the hospital emergency room or call 911 or the local emergency number if the following symptoms occur:Seizures Loss of consciousness Loss of consciousnessDecreased alertness is a state of reduced awareness and is often a serious condition. A coma is the most severe state of decreased alertness from whi...Read Article Now Book Mark Article Abnormal posturing Prevention Genetic counseling is recommended for people with a family history of Krabbe disease who are considering having children.Genetic counselingGenetics is the study of heredity, the process of a parent passing certain genes on to their children. A person's appearance, such as height, hair co...Read Article Now Book Mark Article A blood test can be done to see if you carry the gene for Krabbe disease.Prenatal tests (amniocentesis or chorionic villus sampling) can be done to test a developing baby for this condition.AmniocentesisAmniocentesis is a test that can be done during pregnancy to look for certain problems in the developing baby. These problems include:Birth defectsG...Read Article Now Book Mark Article Chorionic villus samplingChorionic villus sampling (CVS) is a test some pregnant women have to screen their baby for genetic problems.Read Article Now Book Mark Article Open ReferencesReferencesKatirji B. Disorders of peripheral nerves. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. Bradley and Daroff's Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 106.Kwon JM. Neurodegenerative disorders of childhood. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 617.Pastores GM, Wang RY. Lysosomal storage diseases. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Principles and Practice. 6th ed. Philadelphia, PA: Elsevier; 2017:chap 41.