Gaucher's disease lietuviškai

Play Gaucher's disease tarimas /ˈɡəʊʃeɪz/

Gaucher's disease vertimas

  1. gaucher liga

Paaiškinimas anglų kalba

  • a rare chronic disorder of lipid metabolism of genetic origin
  • An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.;This type afflicts both children and adults who show no neurological effect. It is more prevalent in people of Ashkenazi Jewish ancestry.;This type usually shows severe neurological effect in the first year of life.;This type shows moderate to severe neurological effect in childhood.
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