eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases

Krabbe Disease: Treatment & Medication

Author: David H Tegay, DO, FACMG, Associate Professor of Medicine and Medical Genetics, New York College of Osteopathic Medicine at the New York Institute of Technology; Assistant Professor of Pediatrics, Stony Brook University Medical Center
Contributor Information and Disclosures

Updated: Dec 4, 2008

Treatment

Medical Care

  • Hematopoietic stem cell transplantation should be considered in individuals with late-onset or slowly progressive Krabbe disease and, in individuals with infantile-onset disease, in the early neonatal asymptomatic period. Long-term posttransplant neurocognitive and survival outcomes are unknown; however, short-term results are encouraging. Decreased survival and neurocognitive benefit is seen in symptomatic individuals. Overall 5-year survival rates for umbilical cord blood transplantation in individuals with lysosomal storage disease approaches 68%. Three-year posttransplant survival rates for patients with the infantile form of Krabbe disease range from 43% when symptomatic to 100% when asymptomatic prior to transplant.6,7,8,9
  • Symptomatic treatment for some neurologic sequelae is available but has no significant effect on the clinical course.
  • Research continues into enzyme replacement therapy, gene therapy, and neural stem cell transplantation, although this has not yet advanced to the point of clinical trials.

Consultations

  • Clinical geneticist - For initial evaluation and diagnosis, for counseling families regarding recurrence risk, and to help provide prenatal testing if desired in future pregnancies
  • Neurologist - For symptomatic therapy of the multiple neurologic sequelae
  • Ophthalmologist
  • Audiologist

Diet

  • No known dietary modifications significantly alter the clinical course of Krabbe disease.
  • Infants may ultimately require tube feedings for adequate energy intake; however, nutritional support does not change the disease course; therefore, some families may choose to forgo invasive alimentation methods.

Activity

  • Neurologic sequelae may preclude adequate physical activity. Patients may benefit from physical and occupational therapy.

Medication

No medications that alter the natural history of Krabbe disease are currently available. Early hematopoietic stem cell transplantation is the only treatment that has been shown to significantly alter the disease progression.

More on Krabbe Disease

Overview: Krabbe Disease
Differential Diagnoses & Workup: Krabbe Disease
Treatment & Medication: Krabbe Disease
Follow-up: Krabbe Disease
References
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References

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  28. Brockmann K, Dechent P, Wilken B, et al. Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. Neurology. Mar 11 2003;60(5):819-25. [Medline].

  29. Provenzale JM, Escolar M, Kurtzberg J. Quantitative analysis of diffusion tensor imaging data in serial assessment of krabbe disease. Ann N Y Acad Sci. Dec 2005;1064:220-9. [Medline].

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  31. Tokimasa S, Ohta H, Takizawa S, et al. Umbilical cord-blood transplantations from unrelated donors in patients with inherited metabolic diseases: Single-institute experience. Pediatr Transplant. Sep 2008;12(6):672-6. [Medline].

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Further Reading

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Keywords

Krabbe disease, galactocerebrosidase deficiency, galactosylceramide beta-galactosidase deficiency, GALC deficiency, globoid cell leukodystrophy, Krabbe's disease, infantile irritability, hypertonia, hyperesthesia, psychomotor arrest, galactosylceramide lipidosis, diffuse infantile familial sclerosis, myelin sheath disorders, sphingolipidosis, hematopoietic stem cell transplantation, respiratory failure, gastroesophageal reflux, GERD

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Contributor Information and Disclosures

Author

David H Tegay, DO, FACMG, Associate Professor of Medicine and Medical Genetics, New York College of Osteopathic Medicine at the New York Institute of Technology; Assistant Professor of Pediatrics, Stony Brook University Medical Center
David H Tegay, DO, FACMG is a member of the following medical societies: American College of Medical Genetics, American College of Osteopathic Internists, American College of Physicians, American Medical Association, American Osteopathic Association, American Society of Human Genetics, and Federation of American Societies for Experimental Biology
Disclosure: Nothing to disclose.

Medical Editor

Erawati V Bawle, MD, FAAP, FACMG, Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan; Professor (Clinician-Educator), Department of Pediatrics, Wayne State University School of Medicine
Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

David Flannery, MD, FAAP, FACMG, Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia
David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

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