Globoid Cell Leukodystrophy

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Is a:
  • Disease or Syndrome
Definition:
An autosomal recessive metabolic disorder caused by a deficiency of galactosylceramidase leading to intralysosomal accumulation of galactolipids such as galactosylceramides and psychosine. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of myelin disrupts normal conduction of nerve impulses.
Synonyms:
  • Classic Globoid Cell Leukodystrophy
  • Deficiency Disease, Galactosylceramidase
  • Deficiency Disease, Galactosylceramide-beta-Galactosidase
  • Deficiency Diseases, Galactosylceramidase
  • Deficiency Diseases, Galactosylceramide-beta-Galactosidase
  • Diffuse Globoid Body Sclerosis
  • Disease, Galactosylceramidase Deficiency
  • Disease, Galactosylceramide-beta-Galactosidase Deficiency
  • Diseases, Galactosylceramidase Deficiency
  • Diseases, Galactosylceramide-beta-Galactosidase Deficiency
  • Early Onset Globoid Cell Leukodystrophy
  • Early-Onset Globoid Cell Leukodystrophy
  • Galactosylceramidase Deficiency Disease
  • Galactosylceramidase Deficiency Diseases
  • Galactosylceramide beta Galactosidase Deficiency Disease
  • Galactosylceramide-beta-Galactosidase Deficiency Disease
  • Galactosylceramide-beta-Galactosidase Deficiency Diseases
  • Globoid Body Sclerosis, Diffuse
  • Globoid Cell Leukodystrophies
  • Globoid Cell Leukodystrophy
  • Globoid Leukodystrophies
  • Globoid Leukodystrophy
  • Infantile Globoid Cell Leukodystrophy
  • Krabbe Disease
  • Krabbe Leukodystrophy
  • Krabbe's Disease
  • Krabbe's Leukodystrophy
  • Krabbes Disease
  • Krabbes Leukodystrophy
  • Late Onset Globoid Cell Leukodystrophy
  • Late-Onset Globoid Cell Leukodystrophy
  • Leukodystrophies, Globoid
  • Leukodystrophies, Globoid Cell
  • Leukodystrophy, Globoid
  • Leukodystrophy, Globoid Cell, Classic
  • Leukodystrophy, Globoid Cell, Early-Onset
  • Leukodystrophy, Globoid Cell, Infantile
  • Leukodystrophy, Globoid Cell, Late-Onset
  • Leukodystrophy, Krabbe
  • Leukodystrophy, Krabbe's
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