Diseases_of_metabolism.csv

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Author:
elplute
ID:
44140
Filename:
Diseases_of_metabolism.csv
Updated:
2010-10-22 02:04:51
Tags:
metabolism
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Description:
Metabolic Diseases
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  1. Von Gierke's
    glycogen storage disease - type I; involves deficiency in glucose-6-phosphatase; affects liver
  2. Pompe's
    glycogen storage disease - type II; involves deficiency in alpha 1-4-glycosidase; affects all lysosomes
  3. Cori's
    glycogen storage disease - type III; involves deficiency in debrancher enzyme & amylo-1-6-glycosidase; affects all organs
  4. Anderson's
    glycogen storage disease - type IV; involves deficiency in branching enzyme; affects liver & other organs
  5. McArdle's
    glycogen storage disease - type V; involves deficiency in muscle phosphorylase; affects muscle
  6. Hers'
    glycogen storage disease - type VI; involves deficiency in liver phosphorylase; affects liver
  7. Tarui's
    glycogen storage disease - type VIII; involves deficiency in phosphorylase kinase; affects liver
  8. I-cell disease
    lysosomal storage disease; results from a defective phsophotranferase (Golgi enzyme); prevents Golgi from targeting lysosomal protein to the lysosome; results in secretion of lysosomal proteins into the plasma
  9. MPS-II Hunter's syndrome
    mucopolysaccharidosis (LSD); results from iduronic acid-II-sulfatase deficiency; X-linked; interferes with breakdown of GAGs
  10. MPS-I Hurler's syndrome
    mucopolysaccharidosis (LSD); results from alpha-iduronidase deficiency; autosomal recessive; results in accumulation of GAGs
  11. Sly syndrome
    mucopolysaccharidoses (LSD); results from deficiency in beta-glucoronidase; autosomal recessive; results in accumulation of GAGs
  12. Tay-Sach's disease
    lysosomal storage disease; autosomal recessive; results from deficiency in beta-hexosaminidine A; results in accumulation of glycosphingolypids
  13. Gaucher's disease
    lysosomal storage disease; autosomal recessive; results from deficiency in beta-glucoceramididase; results in accumulation of glycosphingolipids
  14. Krabbe's disease
    lysosomal storage disease; results from deficiency in beta-galactoceramididase; results in accumulation of glycosphingolipids
  15. Sandoff disease
    lysosomal storage disease; results from deficiency in beta-N-acetylhexoaminidase; results in accumulation of glycosphingolipids
  16. Fabry's disease
    lysosomal storage disease; results from deficiency in alpha-galactosidase; results in accumulation of glycosphingolipids
  17. CDG-I
    congenital disorders of glycosylation; subset of genetic defects primarily affecting N-glycan assembly; involve inability to synthesize precursors (ER deficiency); patients generally diagnosed by altered electrophoretic mobility of plasma transferrin (usually glycosylated)
  18. Sanfillipo A-D
    mucopolysaccharidoses (LSD); result from deficiencies in enzymes necessary to break down heparin sulfate; autosomal recessive; results in accumulation of GAGs
  19. CDG-II
    congenital disorders of glycosylation; subset of genetic defects primarily affecting N-glycan assembly; involve inability to modify existing proteins (Golgi deficiency); patients generally diagnosed by altered electrophoretic mobility of plasma transferrin (usually glycosylated)
  20. clinically relevant transaminases
    ALT/SGPT - elevated in viral hepatitis & liver cell necrosis & circulatory collapse; AST/SGOT - elevated 6-8h post-MI & in biliary/alcoholic cirrhosis & liver cancer & pancreatitis & mononucleosis & strenuous exercise
  21. PKU
    phenylketonuria; results from deficiency in BH4 or phenylalanine hydroxilase (PAH); prevents conversion of Phe -> Tyr; Tyr important in protein synthesis & DOPA synthesis & fumerate/acetoacetate production
  22. MSUD
    maple syrup urine disease; results from BCKD deficiency (branched-chain-keto-acid-dehydrogenase is important in the breakdown of branched amino acids); results in toxic buildup of Leu & Ile & Val; excreted urine high in branched-chain AAs and has a characteristic smell
  23. folate deficiency
    results in lack of THF (which provides single-carbon groups for protein synthesis & formation of red blood cells & cell growth/division); can -> neural tube defects such as spina bifida
  24. nonketogenic hyperglycemia
    results from deficiency in GCC (glycine cleavage complex) -> inability to cleave glycine; causes accumulation of glycine
  25. ALD
    adrenoleukodystrophy; X-linked recessive disorder; prevents beta-oxidation of VLFA chains by preventing their transfer to peroxisomes
  26. gout
    results from high levels of uric acid -> crystals; can be treated with allopurinol - inhibits xanthine oxidase activity and thus prevents conversion of hypoxanthine to uric acid
  27. leptin resistance
    occurs in many obese patients; mechanisms unknown; only 10% of obesity patients can be treated with leptin
  28. metabolic syndrome
    associated with obesity; involves glucose intolerance & insulin resistance & dyslipidemia & hypertension & increased oxidative stress
  29. insulin resistance
    causes increased activity of hormone-sensitive lipase in adipose tissue -> increased FFA availability -> increased TAG production
  30. types of inborn errors of metabolism
    intoxication; energetic; complex molecule

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