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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 Apr 2020| Content last modified Apr 2020
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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.

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

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Test your knowledge
Congenital Limb Abnormalities
Congenital limb amputations and deficiencies are missing or incomplete limbs at birth. There are many possible causes of congenital limb amputations, and they often occur as a component of various congenital syndromes. Which of the following causes of these amputations is most common?
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