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Lysosomal Storage Diseases

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xixifodo's version from 2017-02-01 22:14

Enzyme Deficiencies

DISEASEDEFICIENT ENZYME
Hurler's Syndromealpha-L-iduronidase (Hali Hurler HepDerm)
Hunter's SyndromeIduronate Sulfate (Hunter HIDeS HepDerm)
I-cell DiseasePhosphotransferase (IPPT)
GM1 gangliosidosisbeta-galactosidase
Fabry's Diseasealpha-Galactosidase A (Fab alpha GA)
Gaucher's DiseaseB-Glucocerebrosidase or Beta-D-Glucosidase (Gauchers By God)
Niemann-Pick DiseaseSphingomyelinase (Pick Sphinger)
Tay-Sachs DiseaseHexosaminidase A (Tay Hex A)
Sandhoff's DiseaseHexosaminidase A + B
Krabbe's DiseaseGalactocerebrosidase (Galactic Crab Brain)
Metachromatic LeukodystrophyArylsulfatase A (MALA)
Farber diseaseCeramidase
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Accumulated Substrate

DiseaseAccumulated Substrate
Fabry'sCeramide Trihexoside (FaCeTri)
Gaucher's Glucocerebroside
Niemann PickSphingomyelin
Tay-SachsGM2 Ganglioside
Krabbe'sGalactocerebroside
Metachromatic LeukodystrophyCerebroside Sulfate
HurlersHeparan Sulfate, Dermatan Sulfate
HuntersHeparan Sulfate, Dermatan Sulfate
I Cell DiseaseN Linked Glycoproteins
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Genetic Inheritance

DiseaseInheritance Pattern
Fabry'sXR (FaXR)
GauchersAR
Niemann PickAR
Tay-SachsAR
Krabbe'sAR
Metachromatic LeukodystrophyAR
HurlersAR (with corneal clouding)
HuntersXR (no corneal clouding) (Hunter hits X with clear eyes)
I CellAR
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Glycogen Storage Diseases

Deficient EnzymeDisease
Glucose 6 Phosphatase (G6Pase)Von 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
Branching EnzymeAnderson
GAL-1-Pgalactosemia
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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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