Metabolic Disorders Clinical

  1. Lipolysis starts about _____hours postparandial, and peaks around _____ hour. Similarly, gluconeogenesis peaks about _____ hours postparandial, but does not peak until _____ hour after
    • 2-3
    • Eighth
    • 2-3
    • 24
  2. Glycogenolysis begins soon after we eat, and lasts for about ______
    10-12 hours until all the storage is used up
  3. What are the 6 disorders from glycogen storage issue?
    • 1 Von Gierkes (G6P deficiency)
    • 2 POmpe (lysosomal 1,4 glucosidase
    • 3 Cori (1,6 glucosidase
    • 4 Anderson (branching enzyme)
    • 5 McArdles (Glycogen Phosphorylase)
    • 6 Hers (glycogene phosphorylase)
    • (mnemonic is: Voracious Penguins Create A Massive Hotdog)
  4. Voracious Penguins Create A Massive Hotdog is __________
    Glycogen storage disease mnemonics
  5. What are disorders resulting form problems with gluconeogenesis?
    • Pyruvate carboxylase
    • Gluoce-6-phosphate dehydrogenase deficiency
  6. Carbohydrate intolerance, aka the inability to metabolize specific sugars, could lead to _______ and _____
    • Galactosemia
    • Hereditary fructose intolerance
  7. Severe lactic acidosis is seen in ______
    • Pyruvate metabolism disorder (pyruvate carboxylase deficiency)
    • While rest of carbohydrate disorders lactate is elevated but not severe
  8. When you can’t make glucose from amino acid, it is a disorder of _______, and example is _______
    • Gluconeogenesis
    • Fructose 1,6-diphosphatase deficiency
  9. Urine reducing substances are seen in ______ disorders
    Carbohydrate: including glycogen storage, galactosemia, glucose intolerance, and pyruvate metabolism
  10. Ketones is present in all conditions except _______
    Fatty acid oxidation defects
  11. Leucine is severe in _____
    Amino aciduria
  12. NH4 is severe in _____
    • Urea cycle problem
    • While mild in amino aciduria and organic acidemia
  13. Ketones are present because of ____
    Fat breakdown
  14. Defects in carbohydrate metabolism would have _____ blood glucose, and ______ fat breakdown, therefore would have increased ______. Would liver size be normal?
    • Low blood sugar (hypoglycemia)
    • Increased fate breakdown
    • Resulting in ketones, and severe lactic acidosis (problems with gluconeogenesis)
    • Liver would be enlarged: hepatosplenomegaly
  15. Which of the glycogen storage disease affects the heart?
    • Pompe (the PUMP is affected) – cardiomegaly, hepatomegaly, macroglossia
    • Accumulation of glycogen in lysosomes
  16. Which of the glycogen storage disease relates to hepatic glycogen phosphorylase deficiency?
    HERS Disease
  17. Which of the glycogen storage disease relates to muscle?
    • McArdles- muscle glycogen phosphorylase deficiency
    • ATP shortage, lack of glucose
    • Result in rhabdomyolysis: severe muscle failure
  18. Gluconeogenesis is the formation of glucose from mainly _____, ______, ____ and _______. First step involves ______ enzyme
    • Lactate
    • Pyruvate
    • Glycerol
    • Alanine
    • Pyruvate carboxylase
  19. Problem with gluconeogenesis would result in ________
    Severe lactic acidosis
  20. Lots of pyruvate would be converted to _____ and _____. This is seen in _____ deficiency
    • Lactate
    • Oxaloacetate
    • Pyruvate carboxylase
  21. What can be seen clinically in patients with pyruvate carboxylase deficiency? How is diagnosis confirmed?
    • Severe lactic acidosis
    • Seizures, hypotonia, coma.
    • Diagnosed by assay of pyruvate carboxylase activity in cultured skin fibroblasts
  22. Which of the carbohydrate disorder is X-linked?
    Glucose 6 phosphate dehydrogenase deficiency
  23. Glucose 6 Phosphate dehydrogenase is needed, otherwise _____ can occur, and clinical presentation include _____, _____ and ____
    • Hemolysis/anemia
    • Dark urine
    • Pale skin
    • Fatigue
  24. A 2 week old baby presents with jaundice, emesis and hypoglycemia, you suspect_____, which is a deficiency in _______, and would treat with ____
    • Galactosemia (could also be E coli sepsis)
    • Galactose-1-phosphate uridyl transferase
    • Treat with galactose-free diet
  25. If untreated galactosemia, what can develop?
    • Brain damage (speech deficits)
    • Cataracts
    • Enlarged liver
    • Kidney damage
  26. Fructose-1-phosphate aldolase deficiency is seen in ____. Clinically this would present with ____, diagnosed by _____ and treat with ______.
    • Hereditary fructose intolerance
    • Failure to thrive, hypoglycemia, Jaundice, vomiting hepatomegaly, liver and kidney failure
    • Diagnosed by Fructose in urine
    • Treat with diet restriction
  27. T/F: carbohydrate disorders are characterized by hypoglycemia and lactic acidosis
  28. T/F: most metabolic disorder enzyme deficiencies are all autosomal recessive except for G6P dehydrogenase, and Hunter are X-linked
  29. A newborn that is feeding poorly, lethargy, vomiting, seizures or coma, and sepsis has been rule out: A) if NH4 and anion gap are normal, suspect _______. B) if NH4 normal or mildly elevated, but anion gap is high, suspect _____. C) if elevated NH4 but normal anion, suspect _______
    • Aminoacidurias or galactosemia
    • Organic acidemias
    • Urea cycle disorders with severely elevated NH4
  30. High anion gap acidosis + high ammonia (NH4) = ____
    Organic acidemia
  31. What is organic acidemia?
    • Mitochondrial accumulation of acetyl CoA metabolites
    • methylmalonic and propionic acidemia
    • Marked metabolic acidosis
    • Excretion of non-amino organic acids in urine
  32. Treat Methylmalonic acidemia with _____ and Propionic acidemia with _______
    • Vitamin B12
    • Biotin
  33. Aminoacidurias include:
    • Maple syrup urine disease
    • Phenylketonuria
    • Alkaptonuria
    • Cystinuria
    • Homocystinuria
  34. Which of the aminoacdiurias has excess leucine in the blood?
    Maple syrup pee
  35. Which of the aminoaciduria has a build up of PKU and tyrosine issue?
    • Phenylketonuria
    • Alkaptonuria
  36. Which of the aminoaciduria has problem with methionine?
    • cystinuria
    • Homocystinuria
  37. Aminoaciduria: Phenylketonuria has ____ deficiency, and leads to ____ accumulation in the brain. Clinically, patient presents with _____ skin, and smells like _____
    • Tyrosine
    • Phenylalanine
    • Fair skin
    • Mouse
  38. Which metabolic condition makes you smell like a mouse?
    Phenylketonuria – a mousy odor
  39. Aminoaciduria: Alkaptonuria has _______ deficiency, and clinically presents with ________________
    • Homogentisate oxidase deficiency
    • Dark urine, ochronosis (dark skin), arthritis
    • Kidney and prostate stones
  40. Kidney stone is the only symptom for this aminoaciduria condition:
  41. This aminoaciduria condition can cause premature hart disease and stroke, as well as cataracts and lens dislocation:
  42. Most common enzyme deficiency seen in urea cycle defects is ____
  43. No acidosis, no ketones, no hypoglycemia, in respiratory alkalosis and severe elevated NH4, think ____
    Urea cycle defects
  44. If you don’t want to smell like cat urine, take ____
    • Biotin
    • (biotin deficiency, multiple carboxylase deficiency end up smelling like cat pee)
  45. Malonyl CoA is important in ______ synthesis, but it inhibits _______
    • Fatty acid synthesis
    • Inhibits fatty acid oxidation
  46. During fasting, malonyl CoA level _____, which would actually allow for fatty acid ______, and this would _____ ATP and ______ ketone presence
    • Drops
    • Fatty acid oxidation
    • Generate
    • Increase
  47. T/F: there is great amount of ketones in Fatty acid oxidation defects
    False; there are no ketones produced in fatty acid oxidation defects
  48. What is defected in fatty acid oxidation defect?
    Acyl-CoA dehydrogenase deficiency
  49. 5% Sudden infant death syndrome can be attributed to ______
    • Medium-chain acyl-coA dehydrogenase deficiency
    • (Fatty acid oxidation defect)
  50. Beta oxidation occurs in the ____, and go into the ______ in ______ to generate ATP
    • Liver
    • TCA
    • Muscle
  51. In fatty acid oxidation defect, _______ is blocked from happening, so there is an increased in _____ which would lead to increased ______ and _______, leading to ______
    • Beta oxidation
    • Acyl-CoA
    • Acylcarnitines
    • Fatty acid
    • Lipotoxicity
  52. Medium chain consists of _____ carbons
  53. How is fatty acid oxidation defect diagnosed?
    Obtain acylcarnitine profile for a kid with hypoglycemia or rhabdomyolysis, this would show elevated fatty acid
  54. Lysosomes contain ____ while peroxisomes contain ____
    • Hydroxylases
    • Oxidative enzymes
  55. Examples of lysosomal storage disorder:
    • Mucopolysaccharidosis – Hurlers, Hunter
    • Sphingolipidoses: Tay-Sachs, Niemann-Pick, Gauchers
  56. Clinical manifestation of lysosomal storage disorders:
    • Frontal bossing,
    • Macroglossia
    • Wide set eyes – hypertelorism
  57. T/F: babies with lysosomal storage disorder appears normal at birth but symptoms such as coarse facial features, corneal clouding, develop later
  58. Mucopolysaccharides have _____charges, and repel each other, acting as ____, so found in _______
    • Negative
    • Lubricant
    • Mucous secretion, vitreous humor, synovial fluid
  59. Mucopolysaccharidoses: X-linked is _____, and gargoylism is _____
    • Hunter II (milder features, corneal clouding)
    • Hurler I (macrocephaly, heptaomeglay, heart valve disease, corenal opacities)
  60. Heparan sulfate accumulation is seen in ___ and _____
    • Hurler and Hunter
    • Mucopolysaccharidoses (lysosomal storage disorder)
  61. How can mucopolysaccharidoses: Hurler and Hunter be treated?
    • Enzyme replacement therapy
    • Bone marrow transplant
  62. Niemann-pick, Gaucher, Tay-sachs are all _______ disorder
    Sphingolipidosis (myelin sheath)
  63. Cherry-red macular spot is seen in______, and _____
    • Niemann-pick
    • Tay-Sachs
    • (all hyphenated!)
  64. Sphinoglipidosis have these in common:
    • Bone pain
    • Splenomegaly
    • Easy bruising
    • Decreased platelets
  65. Drunken baby syndromes are:
    • Adrenoleukodystrophy
    • Zellweger syndrome
    • These are peroxisomal storage disorder
  66. Very long-chain fatty acids is diagnostic for _____ disorder
    Peroxisomal storage
Card Set
Metabolic Disorders Clinical
Endo Exam 2