<prompt> Which of the following enzymes is deficient in Niemann- Pick disease?Aryl sulfataseGlucose-6-phosphataseSphingomyelinaseBeta glucosidase  <response>: Ans.c Sphingomyelinase Ref. Harper Biochemistry, 26th ed. 203; Table 24-1; OP Ghai 6th ed. 542, 616 SphingolipidosesInheritanceEnzyme DeficientCNS InvolvementVisceral Involvement1Fabry diseaseXLRAlpha-Galactosidase_2Krabbes diseaseARBeta-Galactosidase3Farber diseaseARCeramidase--4Gaucher diseaseARBeta-Glucosidase-5Metachromatic leukodystrophyARSulfatide sulfatase-6Niemann-pick diseaseARSphigomyelinase7Tay-sachs diseaseARHexosaminidase A-8Sandhoff diseaseARHexosaminidase A,B NIEMANN-PICK DISEASE- Due to deficiency of sphingomyelinase- Stored material sphingomyelin- Cf: Enlarged liver and spleen, Mental retardation, Cherry-red spots, Foam cells in blood, Pulmonary infiltrates. GAUCHERS DISEASE- Due to deficiency of Acid b-Glucosidase- Stored material Glucosylceramide- Cf: Enlarged liver and spleen, MR, Erosion of long bones Pathological of bones Foam cells in blood. VON-GIERKES DISEASE Type I - glycogenosis- Due to deficiency of glu-6-phosphatase- Cf: Growth retardation, Liver and kidney enlarged due to increased glycogen content, Hypoglycemia, Hyperuricemia, Hyper lipidemia, and Lactate acidosis.Selected Lysosomal Storage DiseasesDisorderEnzyme Deficiency Stored MaterialInheritanceNeurologicLiver Spleen Enlarg- mentSkeletal DysplasiaOphthalmo- logicUnique featuresMucopolysaccharidoses MPSMPSIHHurleralpha-L-Iduro- nidase Dermatan sulfate Heparan sulfateARMental retardation Mental retardation None Corneal cloudingCoarse facies; cardiovascular involvement; joint stiffnessMPS II, HunterIduronate sulfataseDermatan sulfate Heparan sulfateX-linkedMental retardation, less in mild form Retinal degenera- tion, no corneal cloudingCoarse facies; cardiovascular involvement; joint stiffness; distinctive pebbly skin lesionsMPS III A, Sanfilippo AHeparan-N- sulfataseHeparan sulfateARSevere mental retardationNoneMild coarse faciesMPS III B, Sanfilippo BN-Acetyl-a- glucosaminidaseHeparan sulfateARSevere mental retardationNoneMild coarse faciesMPS III C, Sanfilippo CAcetyl-CoA: a- glucosaminide N-acetyltrans- feraseHeparan sulfateARSevere mental retardationNoneMild coarse faciesMPS IIID, Sanfilippo DN-Acetylglucosa- mine-6-sulfate sulfataseHeparan sulfateARSevere mental retardationNoneMild coarse faciesMPS IV A, MorquioN-Acetylgalacto- samine-6-sulfate sulfataseKeratan sulfate Chondroitin-6 sulfateARNone Corneal cloudingDistinctive skeletal deformity; odontoid hypoplasia; aortic valve diseaseMPS VI B, Morquiob-Galactosidase ARNone- MPS VI,Maroteaux- LamyArylsulfatase BDermatan sulfateARNone Corneal cloudingCoarse facies; valvular heart diseaseMPS VIIb-GlucuronidaseDermatan sulfate Heparan sulfateARMental retardation, absent in some adultsCorneal cloudingCoarse facies; vascular involvement; hydrops fetalis in neonatal formGM2 GangliosidosesTay-Sachs diseaseb-Hexosamini- dase AGM2 gangliosidesARMental retardation; seizures; later juvenile formNoneNoneCherry red spot in infantile formMacro-cephaly; hyperacusis in infantile formSandhoffs- diseaseb-Hexosamini- dases A and BGM2 gangliosidesARMental retardation; seizures-Cherry red spotMacro-cephaly; hyperacusis Neutral GlycosphingolipidosesFabrysDiseasea-Galactosi- dase AGlobotriaosyl- ceramideX-linkedPainfulAcropares- thesiasNoneNoneCorneal dystrophy, vascular lesionsCutaneous angiokeratomas; hypo- hydrosisGauchers diseaseAcid b-glucosi- daseGlucosyl- ceramideARNone NoneAdult form highly variableGauchers cells in bone marrow; cytopeniasEye movements Niemann- Pick disease A and BSphingomye - linaseSphingo- myelinARMental retardation; seizures None Osteopo- rosisMacular degenerationPulmonary infiltrates Lung failure Foam cells in bone marrowLeukodystrophiesKrabbes diseaseGalactosyl- ceramidaseGalactosy-IceramideGalactosyls- phingosineARMental retardationNoneNoneNoneWhite matter globoid cellsMetachro- matic leukody - strophyArylsulfatase ACerebroside sulfateARMental retardation; dementia; and psychosis in adultNoneNoneOptic atrophyGait abnormalities in late infantile formMultiple sulfatase deficiencyActive site cysteine to C-a formylglycineconverting enzymeSulfatides; mucopoly - saccharidesARMental retardationRetinal degenerationAbsent activity of ail known cellular sulfatasesDisorders of Neutral LipidsWolmans diseaseAcid lysosomal lipaseCholesteryl esters; triglyceridesARMild mental retardationNoneNoneAdrenal calcificationCholesteryl ester storage diseaseAcid lysosomal lipaseCholesteryl estersARNoneHepato - megalyNoneNoneFatty liver disease; cirrhosisFarbers diseaseAcid ceramidaseCeramideAROccasional mental retardationNoneMacular degenerationArthropathy, subcutaneous nodulesDisorders of GlycogenPompes diseaseAcid a-glucosidaseGlycogenARNeuromuscular-NoneNoneMyocar-diopathy 