Globoid Cell Leukodystrophy

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.

Also Known As:

Krabbe Disease; Leukodystrophy, Globoid; Krabbe Leukodystrophy; Krabbe's Disease; Leukodystrophy, Krabbe; Diffuse Globoid Body Sclerosis; Galactosylceramidase Deficiency Disease; Leukodystrophy, Globoid Cell; Classic Globoid Cell Leukodystrophy; Early-Onset Globoid Cell Leukodystrophy; GALC Deficiency; Galactocerebrosidase Deficiency; Galactosylceramide Lipidosis; Galactosylceramide beta-Galactosidase Deficiency; Galactosylceramide-beta-Galactosidase Deficiency Disease; Galactosylcerebrosidase Deficiency; Galactosylsphingosine Lipidosis; Globoid Body Sclerosis, Diffuse; Globoid Cell Leukoencephalopathy; Globoid Leukodystrophy; Infantile Globoid Cell Leukodystrophy; Krabbe's Leukodystrophy; Late-Onset Globoid Cell Leukodystrophy; Leukodystrophy, Globoid Cell, Classic; Leukodystrophy, Globoid Cell, Early-Onset; Leukodystrophy, Globoid Cell, Infantile; Leukodystrophy, Globoid Cell, Late-Onset; Psychosine Lipidosis; Cell Leukodystrophies, Globoid; Cell Leukodystrophy, Globoid; Cell Leukoencephalopathies, Globoid; Cell Leukoencephalopathy, Globoid; Deficiencies, GALC; Deficiencies, Galactocerebrosidase; Deficiencies, Galactosylceramide beta-Galactosidase; Deficiency Disease, Galactosylceramidase; Deficiency Disease, Galactosylceramide-beta-Galactosidase; Deficiency Diseases, Galactosylceramidase; Deficiency Diseases, Galactosylceramide-beta-Galactosidase; Deficiency, GALC; Deficiency, Galactocerebrosidase; Deficiency, Galactosylceramide beta-Galactosidase; Disease, Galactosylceramidase Deficiency; Disease, Galactosylceramide-beta-Galactosidase Deficiency; Diseases, Galactosylceramidase Deficiency; Diseases, Galactosylceramide-beta-Galactosidase Deficiency; Early Onset Globoid Cell Leukodystrophy; GALC Deficiencies; Galactocerebrosidase Deficiencies; Galactosylceramidase Deficiency Diseases; Galactosylceramide beta Galactosidase Deficiency; Galactosylceramide beta Galactosidase Deficiency Disease; Galactosylceramide beta-Galactosidase Deficiencies; Galactosylceramide-beta-Galactosidase Deficiency Diseases; Globoid Cell Leukodystrophies; Globoid Cell Leukoencephalopathies; Globoid Leukodystrophies; Krabbes Disease; Krabbes Leukodystrophy; Late Onset Globoid Cell Leukodystrophy; Leukodystrophies, Globoid; Leukodystrophies, Globoid Cell; Leukodystrophy, Krabbe's; Leukoencephalopathies, Globoid Cell; Leukoencephalopathy, Globoid Cell; beta-Galactosidase Deficiencies, Galactosylceramide; beta-Galactosidase Deficiency, Galactosylceramide

Nervous System Diseases: 14737
- Demyelinating Diseases: 9340
  - Hereditary Central Nervous System Demyelinating Diseases
    - Globoid Cell Leukodystrophy: 685
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Leukoencephalopathies: 1594
      - Hereditary Central Nervous System Demyelinating Diseases
        Globoid Cell Leukodystrophy: 685
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Hereditary Central Nervous System Demyelinating Diseases
        Globoid Cell Leukodystrophy: 685
        Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Globoid Cell Leukodystrophy: 685
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Globoid Cell Leukodystrophy: 685
    - Inborn Metabolic Brain Diseases: 2
      - Hereditary Central Nervous System Demyelinating Diseases
        Globoid Cell Leukodystrophy: 685
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Globoid Cell Leukodystrophy: 685
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Globoid Cell Leukodystrophy: 685
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Globoid Cell Leukodystrophy: 685
    - Inborn Metabolic Brain Diseases: 2
      - Hereditary Central Nervous System Demyelinating Diseases
        Globoid Cell Leukodystrophy: 685
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Globoid Cell Leukodystrophy: 685
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Globoid Cell Leukodystrophy: 685
  - Lipid Metabolism Disorders: 987
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Globoid Cell Leukodystrophy: 685
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Hereditary Central Nervous System Demyelinating Diseases
        Globoid Cell Leukodystrophy: 685
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Globoid Cell Leukodystrophy: 685

Maike Schoeniger Selected Research

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Disease

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