Metabolism errors

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Metabolism errors
2011-10-27 18:41:24
Metabolism errors

Metabolism errors
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  1. Cori-Forbe IIIa
    Glycogen debranching enzyme defect in muscle & liver

    Hepatomegaly, hypoglycemia, growth retardation, progressive skeletal myopathy, cardiomyopathy.
  2. IIIb
    glycogen debranching enzyme defect in liver.
  3. Anderson IV
    Defect in branching enzymes leads to long unbranched insoluble glycogen that precipitates in liver.

    Hepatomegaly and liver cirrhosis -> death at age 5.
  4. McArdle V
    Defect in muscle phosphorylase.

    • Exercise intolerance & muscle cramps
    • no CORI-cycle
    • rhabdomyolysis -> renal failure

    TX: Glucose before exercise
  5. HERS VI
    Defect in liver phosphorylase

    • Mild to moderate hypoglycemia
    • mild ketosis
    • growth retardation
    • prominent hepatomegaly
    defect in muscle phosphofructokinase

    • Exercise intolerance w/ cramps
    • rhabdomyolysis & myoglobinuria
    • Gout as Fru-6 -> hexose monophosphate pathway
  7. VIII
    Defect hepatic phosphorylase kinase (x-linked)

    • Hepatomegaly
    • growth retardation
    • elevated liver enzymes
    • hypercholesterolemia
    • hypertriglyceridemia
    • fasting hyperketosis

    TX: dextrothyroxine
  8. Fanconi-Bickel XI
    Defect GLUT2.

    • Dec Glucose uptake/release by liver
    • dec glucose sensing in pancreas
    • dec reuptake in renal tubules
    • growth failure
    • rickets
    • osteoporosis
    • dwarfism
    • hepatomegaly
    • moon-shaped face
    • fats deposits on shoulder & abd
    • fractures
    • pancreatitis
    • Glucose, aa, phosphate, pro and uric acid in urine
    • metabolic acidosis

    TX: antiketogenic diet, water, electrolyte, and vitamin D supplementation
  9. Lysosomal sotrage diseases
    • Accumulation of substrate in lysosome & ECM
    • prevents autophagosome-lysosome fusion
    • inflammation via Toll-receptors
    • apoptosis via growth factors
    • cholesterol metabolism & insulin signaling affected
    • lysosphingolipids interfere with cell signal & cytokines -> apoptosis; giant multinuclear cells
    • Ca2+ release after inc Glucose -> exitotoxicity. Low Ca2+ -> apoptosis
  10. Lysosomal storage disease tx
    Enzyme with Man-6-P binds to cellular receptor -> endocytosis -> transport to lysosome
  11. Mitochondrial diseases
    Muscles and nervous system most affected.
  12. Pyruvate Dehydrogenase
    3 enzymes that could be affected

    • lactic & pyruvic acidemia
    • lethargy
    • poor feeding
    • tachypnea
    • developmental delay
    • seizures
    • spasticity
    • ataxia
    • death
  13. Pyruvate DH E1
    inactivated by phosphorylation by PDH-kinase.

    X-linked recessive

    -> lactic acidosis in children
  14. Leigh syndrome
    Mutation in OxPhos or PDH

    Early onset progressive neurodegeneration with focal, bilateral lesions in CNS: demyelination, gliosis, necrosis, spongiosis, or capillary proliferation.

    lactic acidosis, tachypnea, truncal hyptonia, growth retardation, cardiomyopathy, encephalopathy, myoclonic epilepsy

    Inheritance mitochondrial or AR
  15. LEBER hereditary optic neuropathy
  16. Acute or subacute central vision loss leading to central
    • scotoma (blind-spot) or blindness in mid-age
    • neurologic manifestations in some cases
    • susceptibility for tobacco-alcohol amblyopia
    • various mutations in mtDNA for complex I, III, and IV
    Lumps of aggregated mitochondria in muscle biopses, staining red with GOMORI's trichome