Krabbe disease
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Krabbe disease
Genetics
Genetic disorders
Achondroplasia
Alagille syndrome (NORD)
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Autosomal trisomies: Pathology review
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Muscular dystrophies and mitochondrial myopathies: Pathology review
Assessments
Krabbe disease
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Krabbe disease
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External References
First Aid
2022
2021
2020
2019
2018
2017
2016
Globoid cells
Krabbe disease p. 86
Krabbe disease p. 86
Peripheral neuropathy
Krabbe disease p. 86
Summary
Krabbe disease is a rare autosomal recessive disease, in which there is deficiency in glucocerebrosidase enzyme and the accumulation of toxic myelin breakdown product inside cells. This results in progressive neurodegeneration in which early symptoms include vision problems, and balance issues. As the disease progresses, there may be inability to move, speak, or breathe. Most people with Krabbe disease die within two years of diagnosis.
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