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Book

Krabbe Disease

Megha Jain  1 , Orlando De Jesus  2
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
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Book

Krabbe Disease

Megha Jain et al.
Free Books & Documents

Excerpt

Krabbe disease is an autosomal recessive neurodegenerative disorder. The gene mutation occurs at chromosome 14, which codes for a lysosomal hydrolase known as galactosylceramide beta hydrolase (GALC). This enzyme is responsible for metabolizing galactolipids in the central nervous system and peripheral nervous system, and the failure of which will lead to the accumulation of compounds responsible for neurodegeneration. Krabbe disease is also known as globoid cell leukodystrophy because of the characteristic multinucleated globoid cells found on brain biopsy and the presence of white matter degeneration. Krabbe disease is subdivided into four subcategories based on the age of presentation of symptoms; however, many experts disagree with the age range allotted to different subtypes.

  1. Early infantile type: 0 to 13 months

  2. Late infantile type: 13 to 36 months

  3. Juvenile type: 3 to 16 years

  4. Adult type: >16 years

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Conflict of interest statement

Disclosure: Megha Jain declares no relevant financial relationships with ineligible companies.

Disclosure: Orlando De Jesus declares no relevant financial relationships with ineligible companies.

References

    1. Suzuki K, Suzuki Y. Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase. Proc Natl Acad Sci U S A. 1970 Jun;66(2):302-9. - PMC - PubMed
    1. Graziano AC, Cardile V. History, genetic, and recent advances on Krabbe disease. Gene. 2015 Jan 15;555(1):2-13. - PubMed
    1. Suzuki K. Globoid cell leukodystrophy (Krabbe's disease): update. J Child Neurol. 2003 Sep;18(9):595-603. - PubMed
    1. Bascou N, DeRenzo A, Poe MD, Escolar ML. A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life. Orphanet J Rare Dis. 2018 Aug 09;13(1):126. - PMC - PubMed
    1. Luzi P, Rafi MA, Wenger DA. Structure and organization of the human galactocerebrosidase (GALC) gene. Genomics. 1995 Mar 20;26(2):407-9. - PubMed

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