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Updated: Dec 15 2020

Lysosome

Images
https://upload.medbullets.com/topic/102080/images/lysosome-combined.jpg
https://upload.medbullets.com/topic/102080/images/01222017llstep1lysosomalstoragedisrdero-01-01.jpg
  • Overview 
    • Function
      • digest endosomal material
        • via digestive enzymes
          • glycosylases
          • lipases
          • proteases
        • all are acid hydrolases which function at low pH
      • found in all cells
        • higher concentrations in phagocytic cells
    • Forms
      • primary lysosomes
        • newly formed from the trans-Golgi
        • waiting to receive endocytosed material
      • secondary lysosomes
        • aka phagolysosome
        • formed when primary lysosomes fuse with endocytic vesicles
  • Lysosomal Storage Disease (by Deficient Enzymes)
    • Sphingolipidoses
      • Sphingomyelinase
        • deficient in Niemann-Pick disease
          • sphingomyelin accumulates
            • histiocytes look "foamy"
          • presentation
            • hepatosplenomegaly
            • anemia
            • cherry red spots on macula
            • death < 3 years
            • failure to thrive
            • neurodegeneration
          • inheritance
            • AR
            • risk ↑ in Ashkenazi Jews
      • α-galactosidase A
        • deficient in Fabry disease
          • ceramide trihexose accumulates
          • presentation
            • peripheral neuropathy
              • especially in hands and feet
            • angiokeratomas
              • small purple blemishes on skin
            • impaired sweating, either hypo- or anhidrosis
            • cardiovascular disease
            • renal disease
          • inheritance
            • XR
      • β-galactocerebrosidase
        • deficient in Krabbe disease
          • galactocerebroside accumulates
          • presentation
            • hyperactive reflexes
            • optic atrophy
            • developmental delay
            • presence of globoid cells
              • large multinucleated cells that contain PAS positive inclusions
          • inheritance
            • AR
      • β-glucocerebrosidase
        • deficient in Gaucher disease
          • glucocerebroside accumulates in cells of phagocytic cells
            • histiocytes (dendritic cells) look like wrinkled tissue paper
              • called Gaucher's cells
          • presentation
            • three types
              • type I
                • most common
                • hepatosplenomegaly
                • aseptic necrosis of heads of long bones
                • mild anemia
                • possible to live a normal lifespan
              • type II
                • "infantile Gaucher"
                • CNS involved
                • death < 1 year
              • type III
                • "juvenile Gaucher"
                • severity < type II
          • inheritance
            • AR
            • risk ↑ in Ashkenazi Jews
      • Hexosaminidase A
        • deficient in Tay-Sachs disease
          • GM2 ganglioside accumulates
          • lysosomes with onion skin
          • presentation
            • CNS degeneration
            • blindness
            • cherry red spot on macula
            • startle reflex
            • death < 4 years
            • similar to Niemann-Pick but without hepatosplenomegaly
          • inheritance
            • AR
            • risk ↑ in Ashkenazi Jews
      • Arylsulfatase A
        • deficient in metachromatic leukodystrophy
          • cerebroside sulfate accumulates
          • presentation
            • demyelination in CNS and PNS
              • resulting in ataxia and dementia
          • inheritance
            • AR
    • Mucopolysaccharides
      • α-L-iduronidase
        • deficient in Hurler syndrome
          • heparan sulfate and dermatan sulfate accumulates in heart and liver
          • presentation
            • gargoyle-like facies
            • corneal clouding
            • progressive mental retardation
          • inheritance
            • AR
      • Iduronate sulfatase
        • deficient in Hunter syndrome
          • heparan sulfate and dermatan sulfate accumulates
          • presentation
            • severity < than Hurler's
            • aggressive behavior
              • remember: hunter's are aggressive
            • corneal clouding absent
          • inheritance
            • XR
  • Other Lysosomal Disorders
    • I (inclusion)-cell disease
      • cause
        • proteins marked for localization to lysosomes are post-translationally modified in the Golgi
          • mannose residues are phosphorylated by N-acetylglucosamine-phosphotransferase enzyme
        • defect in N-acetylglucosamine-phosphotransferase causes I-cell disease
          • without mannose-6-phosphate designation, the enzymes are secreted instead of being targeted to the lysosome
        • cells cannot degrade endocytosed material and inclusion bodies build up intracellularly
      • presentation
        • high plasma levels of lysosomal enzymes
        • skeletal abnormalities
        • restricted joint movement
        • psychomotor retardation
        • early death
        • coarse facial features
      • no treatment
    • Chédiak–Higashi syndrome
      • cause
        • primary lysosomes of leukocytes cannot fuse with phagosomes
        • due to inability of microtubles to polymerize
        • also affects immune cell chemotaxis
      • presentation
        • ↑ infections
          • especially S. aureus
        • partial albinism
        • peripheral neuropathy
      • inheritance
        • AR
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