A child presents with hepatosplenomegaly and pancytopenia. Bone marrow shows "crumbled tissue paper appearance". It is due to accumulation of:
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.
Glucocerebroside
Sphingomyelin
Ganglioside
Galactocerebroside
Lipids