Authors: Jamie Klein; Kathryn Elkins, MD, Emory University School of Medicine;
Stephanie R. Keller, MD, Children’s Healthcare of Atlanta 

Reviewed: August 2021 

SUMMARY

Krabbe disease (KD) is a rare disorder that affects the brain, spinal cord, and nerves. Children with this disease are missing an important enzyme called galactocerebrosidase. This enzyme breaks down toxic chemicals in the body. Without it, toxic chemicals build up. This buildup can lead to the destruction of myelin, the protective layer around the nerve cells in the body and brain. Without this protective layer, nerves do not work properly, and the brain is injured.  

KD is a member of a group of genetic diseases called leukodystrophies. Diseases in this group involve problems with the white matter—the myelin—of the brain. KD is also known as globoid cell leukodystrophy. 

KD usually first appears in infants younger than one year of age. In these cases, common symptoms include: 

• Fussiness and irritability 
• Weak muscles 
• Stiffness  
• Loss of smiling or normal interaction 

The disease can rapidly worsen. It can lead to: 

• Difficulty feeding 
• Vision loss  
• Seizures  
• Loss of developmental milestones 

Less commonly, KD can first appear later in childhood, adolescence, or adulthood. When KD first begins after the first year of life, the disease may progress more slowly. Early symptoms in these cases may include:  

• Vision problems 
• Weakness 
• Difficulty walking 

Disorder Overview

DESCRIPTION 

Children with KD develop normally in their first months of life. During these first months, they meet developmental milestones including smiling, holding their heads up, and cooing.   

However, children with infantile KD will eventually start to lose their milestones. For example, a baby who once smiled may stop smiling. As more nerve cells become injured, children have difficulty with more activities, including:  

• Eating 
• Seeing 
• Moving 
• Breathing 

KD can present in infancy, childhood, adolescence, or adulthood. In infantile KD, symptoms begin when the child is younger than one year of age. This form of KD is the most common and most severe. Symptoms may quickly worsen without treatment. Children with infantile KD typically pass away by age 2 or 3 years of age.  

In KD that appears after one year of age, children usually live longer, and the disease is slower to progress. 

SIGNS AND SYMPTOMS

Common Symptoms 

Common symptoms of KD include: 

Some symptoms of KD can be mistaken for other issues. For instance, irritability and back arching are often present in babies with infantile KD. These symptoms can be mistaken for signs of colic or reflux. 

CAUSES

LABORATORY INVESTIGATIONS 

Diagnosis 

Some states test for KD as a part of newborn screening. A doctor may also suspect a child has Krabbe disease if the child has typical symptoms of the disease, including fussiness, loss of developmental milestones, and muscle weakness or stiffness.  

However, KD is diagnosed with the use of multiple tests. These include: 

TREATMENT AND THERAPIES  

Stem-Cell Transplantation 

Currently, there is no cure for Krabbe disease. Children diagnosed before they have significant symptoms may be eligible for a stem-cell transplant, which can help slow the progression of the disease. For early infantile KD patients, a stem-cell transplant is most helpful when done within the first 30 days of life. Unfortunately, a transplant cannot repair damage already done by the disease.  

Gene Therapy 

Research on gene therapy for KD is ongoing. Gene therapy for KD would replace abnormal GALC gene copies for normal copies. This type of treatment is not available yet. 

Treatment of Symptoms 

There are treatments available to help with a child’s irritability, muscle stiffness, pain, seizures, and difficulty eating. These treatments include: 

• Medications for irritability and pain, such as gabapentin 
• Medications to help muscles relax, such as baclofen 
• Physical therapy to help with movement and flexibility 
• Antiseizure medications 
• Feeding tubes to help with eating and drinking 

OUTLOOK

KD usually presents before age 6 months, and death occurs by age 2. Although stem-cell transplants slow down the worsening of the disease, children who receive this treatment may still develop difficulty with speech, walking, and learning. Stem cell transplants are not recommended in children with significant symptoms. In these cases, the transplants are not helpful at slowing the disease.  

Unfortunately, treatments that address symptoms do not change the prognosis. Still, medications, physical therapy, and feeding support can help children feel more comfortable.  Children with KD often have more breathing problems later in the disease and require home oxygen or other interventions. Medical equipment or bracing may help maintain movement of joints and help with the transportation and care of the child at home. It is helpful for caregivers to have the additional support of friends or family members when caring for the child.   

Insurance companies may provide some nursing care at home. For some families, hospice care may be appropriate during end-of-life care. 

RELATED DISORDERS

KD is part of a group of diseases called leukodystrophies. Other leukodystrophies include: 

• Metachromatic leukodystrophy 
• X-linked adrenoleukodystrophy 

KD is also part of a group of metabolic diseases called lysosomal storage disorders. 

Research 

ClinicalTrials.gov for Krabbe Disease are clinical trials that are recruiting or will be recruiting. Updates are made daily, so you are encouraged to check back frequently.  

ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted around the world. This is a resource provided by the U.S. National Library of Medicine (NLM), which is an institute within the National Institutes of Health (NIH). Listing a study does not mean it has been evaluated by the U.S. Federal Government. Please read the NLM disclaimer for details.   

Before participating in a study, you are encouraged to talk to your health care provider and learn about the risks and potential benefits.  

The information in the CNF Child Neurology Disorder Directory is not intended to provide diagnosis, treatment, or medical advice and should not be considered a substitute for advice from a healthcare professional. Content provided is for informational purposes only.  CNF is not responsible for actions taken based on the information included on this webpage. Please consult with a physician or other healthcare professional regarding any medical or health related diagnosis or treatment options. 

Escolar ML, West T, Dallavecchia A, Poe MD, LaPoint K. Clinical management of Krabbe disease. J Neurosci Res. 2016 Nov;94(11):1118-25. PMID: 27638597; https://doi.org/10.1002/jnr.23891  

https://www.mayoclinic.org/diseases-conditions/krabbe-disease/diagnosis-treatment/drc-20374183 

https://medlineplus.gov/genetics/condition/krabbe-disease/  

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. 2018 Feb 1;13(1):30. PMID: 29391017; https://doi.org/10.1186/s13023-018-0766-x  

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