Niemann-Pick disease occurs due to a defect in: (A) Ceramidase, (B) Sphinogomyelinase, (C) Phospholipase C, (D) b - galactosidase
Answer is B. DiseaseEnzyme DeficiencyClinical SymptomsNiemann-Pick diseaseSphingomyelinaseEnlarged liver and spleen, mental retardation;fatal in early lifeRef: Harper&;s Biochemistry; 30th edition; Chapter 24 Metabolism of Acylglycerols & Sphingolipids