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149 results
  1. ... Search term GeneReviews Advanced Search Help < Prev Next > Krabbe Disease Synonyms: Galactocerebrosidase Deficiency, GALC Deficiency, Globoid Cell Leukodystrophy ...
  2. ... disease. Learn more about the gene associated with Krabbe disease GALC Inheritance This condition is inherited in an ...
  3. 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 ...
  4. ... 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 ...
  5. ... published></health-condition-summary><health-condition-summary ><name >Krabbe disease</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  6. ... see Galactosemia Galactosemia Galactosialidosis Galactosylceramidase deficiency disease, see Krabbe disease Galactosylceramide lipidosis, see Krabbe disease Galactosylcerebrosidase deficiency, see ...
  7. ... 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 ...
  8. ... 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 ...
  9. Leukodystrophies are rare diseases that affect the cells of the brain and are often genetic. Find more information on these progressive diseases. ... What ...
  10. ... 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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