Niemann Pick disease is due to deficiency of
Correct Answer: Sphingomyelinase
Description: (C) Sphinomyelinase EXAMPLES OF SPHINGOLIPIDOSESDiseaseEnzymeDeficiencyLipid AccumulatingClinical SymptomsTay-Sachs diseaseHexosaminidase ACer--Glc--Gal(NeuAc) / GalNAcMental retardation, blindness, muscular weakness. GM2 Ganglioside Fabry's diseasea-GalactosidaseCer--Glc--GalGalSkin rash, kidney failure (full symptoms only in Globotriaosylceramidemales; X-linked recessive).MetachromaticleukodystrophyArylsulfatase ACer--Gal/OSO3Mental retardation and psychologic disturbances in adults; demyelination. 3-SulfogalactosylceramideKrabbe's diseaseb-GalactosidaseCer/ GalMental retardation; myelin almost absent. Galactosylceramide Gaucher's diseaseb-GlucosidaseCer/ GlcEnlarged liver and spleen, erosion of long bones, Glucosylceramidemental retardation in infants.Niemann-Pick diseaseSphingomyelinaseCer/ P--cholineSphingomyelinEnlarged liver and spleen, mental retardation; fatal in early life.Farber's diseaseCeramidaseAcyl/SphingosineHoarseness, dermatitis, skeletal deformation, mental retardation; fatal in early life.
Category:
Biochemistry
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