Splenomegaly seen in A/E: (PGI Dec 2006)
Ans: B (Krabbe's disease) Lysomal Storage Diseases Without AR inheritance# MPS -II Hunter# Fabry's diseaseBoth are X-linkedHepa tospleenomegaly# Toy Sach's diseaseQ# Fabryr's diseasesQMucolipidosis III; psued-o-Hurler polydystrophyKrabbe's diseaseQ# Metachromatic leukodystrophyCholesteryl ester storage disease (only hepatomegaly). Table (Harrison 17th/24S2-53): Selected Lysosomal Storage DiseasesDisorder'Enzyme Deficiency (Specific Therapy)Stored MaterialClinical Types (Onset)InheritanceNeurologicLiver Spleen EnlargementSkeletal DysplasiaOphthalmologicHematologicUnique FeaturesGaucherdiseaseAcid -gluco- sidase (ET, SRT)Glucosyl - ceramideType 1Type 2Type 3ARNone++++++++++++ +++++++++++++NoneEye movements Eye movementsGaucher cells in bone marrow, cytopeniasAdult form highly variableNiemann-Pickdisease (A and B)Sphingomy - elinaseSphingo - myelinNeuronopathic type A Nonneu- ronopath- ic type BARMental retardation and seizures++++None OsteoporosisMacular degenerationFoam cells in bone marrowPulmonary-infiltratesLung failureSialidosisNeuraminidaseSialyloli - gosaccha- ridesType I. congenitalType II, infantile and Juvenile formsARMyoclonus,Mental retardation++, less in type 1++, less in type 1Cherry red spotVacuolatedlymphocytesMPS phenotype in type IIKrabbe diseaseGalactosyl- ceramidase (B MT)Galac -tosylce - ramide,GalactosylsphingosineInfantileARMentalretardationNoneNoneNoneNoneWhite matter globoid cellsTay-Sachs diseaseHexosamini- dae AGM2 gan- gliosidesInfantile juvenileARMental retardation, seizures, later juvenile formNoneNoneCherry- red spot in infantile formNoneMacrocephaly, hyper - acusis in infantile formSandhoff diseaseHexosaminidases A and BGM2 gan- gliosidesGM2 gan- gliosides InfantileARMental retardation, seizures+++-Cherry red spotNoneMacrocephaly, hyperatusis Krabbe's DiseaseIt is a lysosomal storage disorder classified under leukodystrophies.Enzyme deficient is (Galactosylceramidease) with resultant accumulation of galactosyl cermamide and galactosyl sphingosine.It has AR inheritance a/w mental retardation.There is no hepatospleenomegaiyQ skeletal, opthmotogical or hematologic manifestations.
Neimann pick's disease
Krabbe's disease
GM2, gangliosidosis
Gaucher's disease
Glycogen Metabolism and Glycogen Storage