Sphingomyelinase deficiency is seen in: (A) Niemann - Pick disease, (B) Farber's disease, (C) Tay Sach's disease, (D) Krabbe's disease
Answer is A. DiseaseEnzyme DeficiencyClinical SymptomsNiemann-PickdiseaseSphingomyelinaseEnlarged liver and spleen, mental retardation;fatal in early lifeRef: Harper&;s Biochemistry; 30th edition; Chapter 24; 24 Metabolism of Acylglycerols & Sphingolipids