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What is Glucoseramide with enlarged liver and spleen is found in - and explain in detail?
Ans. is Gaucher Gaucher's o Autosomal recessive, o Deficiency of glucocerebrosidase. o Accumulation of glucosyl ceramides in cells of RES. o Spleen enlarged with S/o hypersplenism (leukopenia thrombocytopenia), o Liver enlarged, o Expansion of bone marrow. Tay sachs o Autosomal recessive, o Deficiency of hexosaminidase, o Accumulation of ganglioside GM2 in nervous system, o C/F Apathy Hypotomia Visual defect Develop mental defect o Fundus = Cherry red spot hepatosklema o Fabry o X-link recessive. o Dificiency of ceramide trihexosidase. o Accumulation of trihexose in CNS, skin, kidney. Blood vessel, heart, sweat, comea'bone marrow, o Recurrent episodes of burning pain and paresthesia, o Skin lesion, o Corneal opacity cataract, o Necrosis of femoral head, o Hyperkalemia. o Renal failure, hepatospleno megaly o.