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leukodystrofia globoidocelulárna

Subject h.	leukodystrofia globoidocelulárna
Subject h.	Leukodystrophy, Globoid Cell
Entry terms	Krabbeho choroba Krabbeho syndróm (I) cerebrosclerosis acuta diffusa infantilis poliodystrophia cerebri progressiva infantilis skleróza sferoidálnych buniek difúzna leukodystrofia sferoidálnych buniek choroba z deficitu galaktozylceramidázy lipidóza galaktozylceramidová
English X references	Diffuse Globoid Body Sclerosis Galactosylceramidase Deficiency Disease Krabbe Disease
Scope note in English	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 reference (FX) in Slovak	galaktozylceramidáza
See also reference (FX) in English	Galactosylceramidase
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Number of the records: 1