Leukodystrophy, Globoid Cell D007965

Related MeSH Hierarchy (15)

Description

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.   MeSH

Phase 1 Indicated Drugs (2)


Organization Involved with Phase 3 Indications (1)

Organization Involved with Phase 2 Indications (2)

Organization Involved with Phase 1 Indications (2)

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UMLS Data


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