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Enfermedad de Gaucher
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Definición:
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.
Sinónimos:
Enfermedad por Deficiencia de Glucocerebrosidasa /
Enfermedad por Deficiencia de Glucosilceramida beta Glucosidasa /
SÃndrome de Lipidosis Cerebrósida /
Sindrome de Lipidosis Cerebrosida /
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