You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information.
What is A child presents with hepatosplenomegaly and pancytopenia. Bone marrow shows "crumbled tissue paper appearance". It is due to accumulation of: and explain in detail?
Ans. A. Glucocerebroside(Ref: Nelson 20/e, Chapter 86.4 Lipidoses)SphingolipidosesEnzyme deficiencySphingolipid accumulatedFarber diseaseCeramidaseCeramideFabry diseasea-GalactosidaseGlobotriaosyl CeramideGM1 gangliosidosisb-GalactosidaseGM1 GangliosideGM2 gangliosidosisTay-Sachs diseaseb-Hexosaminidases AGM2 GangliosideSandhoff diseaseb-Hexosaminidases A and BGM2 GangliosideGaucher diseaseGlucocerebrosidase/ b GlucosidaseGlucosylceramideNiemann-Pick DiseaseSphingomyelinaseSphingomyelinMetachromatic leukodystrophyArylsulfatase A Sphingolipid activator Protein (SAP-1)Sulfogalactosyl CeramideKrabbe diseaseb-Galactosidaseb-GalactocerebrosidaseGalactosyl CeramideGaucher's DiseaseMost common lysosomal storage disorderGlucocerebrosidase defectLysosomes filled with glucocerebrosideNo cherry red spot in the maculaNo mental deterioration (Type I)Hematological features-Pancytopenia, bleeding manifestationHepatosplenomegalyBone pain and pathological fractures of long bonesX-ray Femur-Erlenmeyer flask deformityBone marrow biopsy-Gaucher cell with Wrinkled paper appearance/crumbled tissue paper appearance.