A 44 yr old female presented with bony pain.On general examination hepatospleenomegaly was observed.Biopsy from spleen shows crumpled tissue paper appearance.Which of the following product is likely to have accumulated?
GAUCHER DISEASE: It is one of the most common lysosomal storage diseases There are 3 clinical subtypes delineated by the absence or presence and progression of neurologic manifestations: type 1 or the adult, nonneuronopathic form; type 2, the infantile or acute neuronopathic form; and type 3, the juvenile or subacute neuronopathic form. All are autosomal recessive traits. Clinical manifestations : Thrombocytopenia & its manifestation *Anemia & its manifestation * Hepatomegaly with or without elevated liver function test results *Splenomegaly *Bone pain. *Pulmonary involvement *Growth retardation Erlenmeyer flask deformity of the distal femur Gaucher disease should be considered in the differential diagnosis of patients with unexplained organomegaly, who bruise easily, have bone pain, or have a combination of these conditions The pathologic hallmark of Gaucher disease is the Gaucher cell in the reticuloendothelial system, paicularly in the bone marrow. Treatment: Enzyme replacement therapy. The efficacy of enzyme replacement therapy with mannose-terminated recombinant human acid b- glucosidase has definitively been demonstrated. Reference: Harpers illustrated biochemistry 30th edition
Ganglioside
Glucocerebroside
Sphingomyelin
Sulfatides
Metabolism of carbohydrate