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Leukodystrophy, Globoid Cell

More information in Books or onNLM PubMed
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.     
See Also Galactosylceramidase
Other names Krabbe Disease; Galactosylceramidase Deficiency Disease; Diffuse Globoid Body Sclerosis; Leukoencephalopathy, Globoid Cell; Leukoencephalopathies, Globoid Cell; Leukodystrophy, Krabbe's; Leukodystrophy, Krabbe; Leukodystrophy, Globoid; Leukodystrophies, Globoid Cell; Leukodystrophies, Globoid; Late Onset Globoid Cell Leukodystrophy; Krabbes Leukodystrophy; Krabbes Disease; Globoid Cell Leukoencephalopathies; Globoid Cell Leukodystrophies; Galactosylceramide-beta-Galactosidase Deficiency D; Galactosylceramide beta Galactosidase Deficiency D; Galactosylceramidase Deficiency Diseases; Early Onset Globoid Cell Leukodystrophy; Diseases, Galactosylceramide-beta-Galactosidase De
 
SubstanceCAS Registry & nameCategoriesSource
Galactocerebrosidase deficiency  0   *Leukodystrophy, Globoid Cell.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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