Last update 19 Sep 2024

Leukodystrophy, Globoid Cell

Basic Info

Synonyms
Adult type Krabbe disease, Adult-type Krabbe's disease, Adult-type globoid cell leukodystrophy
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Introduction
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.

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