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Krabbe Disease

(Krabbe's Disease; Galactosylceramide Lipidosis; Globoid Cell Leukodystrophy)

By

Matt Demczko

, MD, Sidney Kimmel Medical College of Thomas Jefferson University

Last full review/revision Oct 2021
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Krabbe disease is a sphingolipidosis Sphingolipidoses Lysosomal enzymes break down macromolecules, either those from the cell itself (eg, when cellular structural components are being recycled) or those acquired outside the cell. Inherited defects... read more , an inherited disorder of metabolism, that causes intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death.

For more information, see table Some Sphingolipidoses Some Sphingolipidoses Some Sphingolipidoses .

It affects infants and is characterized by intellectual disability, paralysis, blindness, deafness, and pseudobulbar palsy, progressing to death.

Because bone marrow or stem cell transplantation prolongs life span and improves functional abilities of children who have the infantile or late infantile form, prenatal testing or neonatal screening Screening Tests for Newborns Screening recommendations for newborns vary by clinical context and state requirements. Blood typing is indicated when the mother has type O or Rh-negative blood or when minor blood antigens... read more (currently available in 10 states in the US) is sometimes done.

Treatment of Krabbe disease is supportive.

More Information

The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.

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NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version

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