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Lysosomal Storage Diseases

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amyhan's version from 2016-05-18 00:27

Enzyme Deficiencies

DISEASEDEFICIENT ENZYME
Fabry's Diseasealpha-Galactosidase A
Gaucher's DiseaseGlucocerebrosidase
Niemann-Pick DiseaseSphingomyelinase
Tay-Sachs DiseaseHexosaminidase A
Hurler's Syndromealpha-L-iduronidase
Hunter's SyndromeIduronate Sulfatase
Krabbe's DiseaseGalactocerebrosidase
Metachromatic LeukodystrophyArylsulfatase A
Inclusion Cell DiseaseN-acetylglucosaminyl-1-phosphotransferase
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Accumulated Substrate

DiseaseAccumulated Substrate
Fabry'sCeramide Trihexoside
Gaucher's Glucocerebroside
Niemann PickSphingomyelin
Tay-SachsGM2
Krabbe'sGalactocerebroside
Metachromatic LeukodystrophyCerebroside Sulfate
HurlersHeparan Sulfate, Dermatan Sulfate
HuntersHeparan Sulfate, Dermatan Sulfate
Inclusion Cell DiseaseExtracellular Lysosomal enzymes
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Clinical Presentation

DiseaseFindings
Fabry'sPeripheral neuropathy, angiokeratomas, CV and Renal disease
Gaucher's Hepatosplenomegaly, aseptic necrosis of femur, bone crises, crumpled tissue paper cells
Niemann PickProgressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells
Tay-SachsProgressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin
Krabbe'sPeripheral neuropathy, developmental delay, optic atrophy, globoid cells
Metachromatic LeukodystrophyCentral and peripheral demylination, ataxia, dementia
HurlersDevelopmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
HuntersMild developmental delay, mild gargoylism
Inclusion Cell DiseaseCoarse facial features, clouded corneas, restricted joint movement, often fatal in childhood.
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Genetic Inheritance

DiseaseInheritance Pattern
Fabry'sXR
GauchersAR
Niemann PickAR
Tay-SachsAR
Krabbe'sAR
Metachromatic LeukodystrophyAR
HurlersAR
HuntersXR
Inclusion Cell DiseaseAR
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Glycogen Storage Diseases

Deficient EnzymeDisease
Glucose 6 PhosphataseVon Gierkes I
(Lysosomal) alpha 1 4 glucocidase (acid maltase)Pompes II
(Debranching Enzyme) alpha 1 6 glucocidaseCori's III (Forde)
skeletal muscle glycogen phosphorylaseMcCardles IV
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Glycogen Storage Diseases Presentation

Deficient EnzymeDisease
Fasting Hypoglycemia, Glycogen in Liver, High Blood Lactate, HepatomegalyVon Gierkes I
CardiomegalyPompe's Disease II
Fasting Hypoglycemia, Glycogen in Liver, Normal Blood Lactate, HepatomegalyCori's Disease III
Glycogen in muscle, myositis, myoglobinuriaMcCardles IV
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