Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Krabbe leukodystrophy; Globoid cell leukodystrophy; GCL;
Eye diseases; Newborn Screening
Krabbe disease affects the development and function of the nervous system. There are several types of Krabbe disease that differ based on the age that symptoms begin. The early-onset type of Krabbe disease is the most common and the most severe. Babies who have early-onset (infantile) Krabbe disease typically develop features in the first six months of life. Symptoms of infantile Krabbe disease may include irritability, failure to thrive, slowed development, and unexplained fevers. These are followed by progressive muscle weakness, hearing and vision loss, and decreased movement. Symptoms of the later-onset types of Krabbe disease start in childhood, early adolescence, or adulthood. These may include muscle weakness and stiffness, loss of milestones, blindness, behavior problems,
- Increased muscle tone (hypertonia)
Developmental delayand/or regression
- Unexplained fevers
- Vomiting and other feeding difficulties
- Vision loss
- Slow growth (failure to thrive)
- Damage to the nerves outside the brain and spinal cord (
peripheral neuropathy) Seizures Hearing loss
The symptoms of Krabbe disease can develop at different ages. Babies affected by early-onset (infantile) type usually develop symptoms in the first six months. People with the late-onset types may not develop symptoms until later in childhood, adolescence or adulthood. Signs and symptoms of the later-onset forms are extremely variable but may include muscle weakness and rigidity, walking difficulties, vision loss, intellectual regression, and/or seizures. Life expectancy is reduced in all types of Krabbe disease. Without treatment, people with the early-onset type usually die by age 2.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|Percent of people who have these symptoms is not available through HPO|
|Abnormal flash visual evoked potentials||0007928|
|Decreased nerve conduction velocity||0000762|
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|Diffuse cerebral atrophy||0002506|
|Failure to thrive||
[ more ]
[ more ]
Too much cerebrospinal fluid in the brain
|Hyperactive deep tendon reflexes||0006801|
Progressive degeneration of movement
Low or weak muscle tone
Ongoing loss of nerve cells
Involuntary, rapid, rhythmic eye movements
Increased body temperature, episodic
[ more ]
Nerve damage causing decreased feeling and movement
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
- An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive
newborn screeningresult. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
- Baby's First Test is the nation's newborn
screeningeducation center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
Specialists involved in the care of someone with Krabbe disease may include:
Neurologist Ophthalmologist Otolaryngologist Medical geneticist Gastroenterologist Physical therapist Occupational therapist
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Krabbe disease. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. 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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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.
- Orsini JJ, Escolar ML, Wasserstein MP, Caggana M. Krabbe Disease. GeneReviews. Updated Oct 11, 2018; https://www.ncbi.nlm.nih.gov/books/NBK1238/.
- Jain M, De Jesus O. Krabbe Disease. StatPearls. Updated Nov 14, 2020; https://pubmed.ncbi.nlm.nih.gov/32965986/.
- Komatsuzaki S,Zielonka M, Mountford WK, Kölker S, Hoffmann GF, Garbade SF, Ries M.. Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases.. Genet Med. Oct 2019; 21(10):2208-2215. https://pubmed.ncbi.nlm.nih.gov/30899093/.
- Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, Ficicioglu C, Waldman AT, Burton BK, Hopkins PV, Orsini JJ. Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. Orphanet J Rare Dis.. Feb 1 2018; 13(1):30. https://pubmed.ncbi.nlm.nih.gov/29391017/.