- ... Search term GeneReviews Advanced Search Help < Prev Next > Krabbe Disease Synonyms: Galactocerebrosidase Deficiency, GALC Deficiency, Globoid Cell Leukodystrophy ...
- ... disease. Learn more about the gene associated with Krabbe disease GALC Inheritance This condition is inherited in an ...
- Krabbe disease is a rare genetic disorder of the nervous system. It is a type of brain disease ... A defect in the GALC gene causes Krabbe disease. People with this gene defect do ... beta-galactosidase (galactosylceramidase). The body needs this enzyme ...
- ... little psychosine. Health Conditions Related to Genetic Changes Krabbe disease More than 200 GALC gene mutations that cause Krabbe disease have been identified. Krabbe disease is a brain ...
- ... published></health-condition-summary><health-condition-summary ><name >Krabbe disease</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... see Galactosemia Galactosemia Galactosialidosis Galactosylceramidase deficiency disease, see Krabbe disease Galactosylceramide lipidosis, see Krabbe disease Galactosylcerebrosidase deficiency, see ...
- ... salt levels in sweat, & longer life expectancy. GALC Krabbe disease AR Spectrum ranging from infantile-onset disease (i. ... followed by rapid severe neurologic deterioration. Later-onset Krabbe disease is much more variable in its presentation & disease ...
- ... Optic atrophy & epilepsy may occur. GALC Adult-onset Krabbe disease AR Affected persons present w/signs of pyramidal ... w/ LMNB1 -related ADLD. However, in adult-onset Krabbe disease, these tracts are less often affected in the ...
- Leukodystrophies are rare diseases that affect the cells of the brain and are often genetic. Find more information on these progressive diseases. ... What ...
- ... with signs and symptoms resembling another leukodystrophy called Krabbe disease . In addition, a few mutations in the PSAP ... SAPOSIN C DEFICIENCY; GDSAPC COMBINED SAPOSIN DEFICIENCY; PSAPD KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY; KRBSAPA Gene ...
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