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Doença de Gaucher
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Definição:
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase () leading to intralysosomal accumulation of glycosylceramide mainly in cells of the . The characteristic Gaucher cells, glycosphingolipid-filled , displace normal cells in and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
Sinônimos:
Doença da Deficiência de Glucocerebrosidase /
Doença da Deficiência de Glucosilceramida beta-Glucosidase /
SÃndrome de Lipidose CerebrosÃdia /
Doença de Gaucher Tipo 1 /
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