Glycogen & Lysosomal storage diseases

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  1. Von Gierke's disease (type 1)
    • Deficiency: Glucose-6-phosphatase
    • Findings: Severe fasting hypoglycemia, incr glycogen in liver, incr blood lactate, hepatomegaly
  2. Pompe's Disease (Type II)
    • Deficiency: Lysosomal alpha-1,4-glucosidase (acid maltase)
    • Findings: Cardiomegaly, systemic findings leading to early death
    • **Pompe's trashes the Pump (heart, liver, muscle)
  3. Cori's Disease (Type III)
    • Deficiency: Debranching enzyme (alpha-1,6-glucosidase)
    • Findings: milder form of Type I with normal blood lactate levels
    • **GNG is intact**
  4. McArdle's Disease (Type V)
    • Deficiency: Skeletal Muscle glycogen phosphorylase
    • Findings: Incr glycogen in muscle, can't break it down - painful muscle cramps, exercise intolerance, myalgia, fatigue, etc.
  5. Fabry's Disease
    • XLR
    • Deficiency: alpha-galactosidase A
    • accum: ceramide trihexoside
    • Findings: peripheral neuropathy of hands/feet, angiokeratomas, CV/renal disease
  6. Gaucher's disease
    • AR
    • Defieciency: Beta-glucocerebrosidase
    • accum: glucocerebroside
    • findings: hepatosplenomegaly, aseptic necrosis of femur, bone crises, gaucher cells (crumpled tissue paper macrophages)
    • RES
  7. Niemann-Pick disease
    • AR
    • deficiency: sphingomyelinase
    • Accum: sphingomyelin in neurons - EM zebra stripes
    • findings: progressive neurodegen, hepatosplenomegaly, cherry red spot on macula, foam cells. Death from neuro failure <2yoa. Pale yellow retina.
  8. Tay Sachs disease
    • AR
    • Deficiency: hexosaminidase A
    • accum: GM2 ganglioside
    • Findings: progressive neurodegen, developmental delay, cherry red spot on macular, lysosomes with onion skin, NO HEPATOSPLENOMEGALY
  9. Krabbe's disease
    • AR
    • deficiency: Galactocerebrosidase
    • Accum: galactocerebroside
    • Findings: peripheral neuropathy, developmental delay, optic atrophy, globoid cells.
  10. Hurler's syndrome
    • AR
    • deficiency: alpha-L-iduronidase
    • accum: heparan sulfate, dermatan sulfate
    • findings: developmental delay, gargoylism, AW obstruction, corneal clouding
  11. Hunter's syndrome
    • XLR
    • deficiency: iduronate sulfatase (I DO RUN)
    • accum: heparan sulfate, dermatan sulfate
    • findings: mild hurlers + aggressive behavior, no corneal clouding. coarse facial features.
    • "hunters see clearly and aim for the x"
Card Set:
Glycogen & Lysosomal storage diseases
2011-08-14 17:22:35

storage diseases
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