Biochemistry Diseases

Card Set Information

Biochemistry Diseases
2012-10-06 13:07:39

Show Answers:

  1. Edema (definition)
    Excess fluid in the interstitial space
  2. Edema (Cause)

    - increased capillary pressure from venous obstruction, heart fail

    • -increased capillary permeability from burns/allergy/toxin
    • -decreased plasma protein because of diet, kidney loss
    • -kidney disease which decreases GFR
    • -Lymphatic Obstruction which decreases the return of protein
  3. Hyponatremia (definition)
    Na+ plasma concentration < 136 mmol/dL
  4. Hyponatremia (Cause and Effect)
    Causes:-loss of sodium is greater than loss of water-decreased aldosterone concentrations-overhydration, use of antidiuretics, syndrome of inappropriate ADH secretion(SIADH) -renal failure causing low urine volume-dietary deficiency of sodiumEffects:-hypotonic plasma thus decreased osmolality-water goes into cells - swelling- weakness, convulsions, seizures - coma - death-pulmonary edema - respiratory distress
  5. Hypernatremia (definition)
    Na+ plasma concentration > 148 mmol/dL
  6. Hypernatremia (Cause and Effect)

    • -Dehydration, sweating, diarreah
    • -diabetes insipidus
    • -Adrenal tumor - excess aldosterone secretion


    • -increased plasma osmolality
    • -water leaves cells - shrinkage
    • -metabolic functions affected
    • -irratability, convulsions, coma
    • -low plasma volume affects cardiac/renal function
  7. Hypovolemia (definition)
    Blood volume depletion
  8. Hypovolemia (Cause and Effect)



    Tiredness, lethargy, altered reflexes, blood pressure decrease, increased heart rate
  9. Hypervolemia (definition)
    Large blood volume
  10. Hypervolemia (Cause and Effect)


    Effect: congestive heart failure, pulmonary edema, convulsions
  11. Renal Failure (definition)
    Reduced number of functioning nephrons
  12. Renal Failure (Effect)

    • -Decreased glomerular filtration rate
    • -decreased H+ excretion 
    • -decreased NH4+ excretion 
    • -decreased bicarb regeneration
  13. Polyuria (definition)
    Renal loss of fluid (>3L/day)
  14. Polyuria (Cause)

    • -Psychogenic Polydipsia
    • -diabetes insipidus
    • -nephrogenic diabetes insipidus
    • -osmotic diuresis
    • -kidney disease because there is decreased transport of water and ions
  15. Psychogenic Polydipsia (definition)
    compulsive intake of water
  16. Psychogenic Polydipsia (Effect)
  17. Diabetes Insipidus (definition)
    • Impaired production/release of ADH
    • disease where kidneys are unable to conserve water
  18. Diabetes Insipidus (effect)
  19. Nephrogenic Diabetes Insipidus (definition)
    • Renal tubes do not respond to ADH
    • Kidneys cannot reabsorb water
  20. Nephrogenic Diabetes Insipidus (Effect)
  21. Osmotic Diuresis (definition)
    • Plasma glu conc exceeds renal Tm for reabsorbtion
    • (Tm maximal rate of transport)
  22. Osmotic Diuresis (Cause and Effect)
    • Cause:
    • -excess glucose from diet but usually only in diabetics

    • Effect:
    • -large urine volume
    • -decreased sodium reabsorption
    • - glycosuria
  23. SIADH (definition)
    Syndrome of inappropriate ADH secretion
  24. SIADH (Cause and Effect)
    • Cause:
    • -ADH is continuously secreted

    • Effect:
    • -increased urine osmolality with sodium concentrations > 30mmol/L
  25. Metabolic Acidosis (definition)
    decreased blood pH 

    (< 7.3)
  26. Metabolic Acidosis (Cause and Effect)
    • Causes: 
    • -lactic acidosis
    • -ketoacidosis
    • -impaited H excretion
    • -exogenous acid
    • -loss of bicarbonate
    • -salicylate in blood (Aspirin)


    hyperventilation to lower pCO2
  27. Metabolic alkalosis (definition)
    Increased blood pH

    (> 7.3)
  28. Metabolic Alkalosis (Cause and Effect)

    • -loss of h
    • -K deficiency
    • -alkali ingestion
    • -antacid
    • -diuretics
    • -vomiting (loss of HCl)
    • -Cl deficieny (increased bicarbonate reabsorption)

    • Effects:
    • - hypoventilation to increase blood pCO2
  29. Hyperaldosteronism (definition)
    Excess aldosterone secretion
  30. Hyperaldosteronism (Cause and Effect)
    • Cause:
    • -Adrenal or pituitary malfunction

    • Effect:
    • -increase in sodium absorption leads to an increase in H+ secretion+excretion 
    • -Metabolic Alkalosis
  31. Hypokalemia (definition)
    Low plasma concentration
  32. Hypokalemia (Cause and Effect)
    • Cause:
    • -diuretics (loop and thiazide)

    • Effects:
    • - excess H+ secretion causing metabolic alkalosis
  33. Hyperkalemia (definition)
    High plasma K concentration
  34. Hyperkalemia (Cause and Effect)
    • Cause:
    • -H+ goes into cells when blood is acidotic in order to buffer pH so K+ is removed from cells.

    • Effect:
    • - competes at distal tubule with H+ for secretion causing acidosis
  35. Respiratory Acidosis (definition)
    Decrease in blood pH due to increase in blood pCO2
  36. Respiratory Acidosis (Cause and Effect)
    • Causes:
    • -Hypoventilation, COPD (emphysema), stroke, hypoxia
    • -anaesthetics, opiates, spinal cord damage
    • -poliomyelitis, epilepsy, resp muscle dystrophy/trauma
    • -vomit, tumor, asthma, cystic fibrosis, pneumonia
    • -Congestive Heart Failure, Respiratory Distress Syndrome (low surfactant)
    • -toxic doses of aspirin

    • Effect:
    • -Kidneys increase excretion of H+ 
    • -kidneys increase reabsorbption of bicarbonate and Na
  37. Respiratory alkalosis (definition)
    Increase in blood pH due to decrease in blood pCO2
  38. Respiratory alkalosis (Cause and Effect)
    • Causes:
    • -hyperventilation, salicylate intoxication, hysteria
    • -anxiety, response to stress, oxygen tension,
    • -above normal levels of aspirin stimulate resp center

    • Effect:
    • -kidney decreases H+ excretion 
    • -decreases bicarbonate reabsorption
  39. Hyperchloremia (definition)
    Low blood pH due to high Cl- plasma concentration
  40. Hyperchloremia (Cause and Effect)
    • Causes:
    • -High Cl- concentration leads to decreased bicarbonate reabsorption in order to maintain electroneutrality

    • Effect: 
    • Acidosis
  41. Hypochloremia (definition)
    high blood pH due to low blood Cl- concentration
  42. Hypochloremia (Cause and effect)
    • Causes:
    • low Cl- concentration leads to increased bicarbonate reabsorption in an attempt to maintain electroneutrality

    • Effect:
    • Alkalosis
  43. Tyrosinase deficiency (effect)
    No melanin synthesis leading to oculocutaneous albinism

    leads to skin cancer, vision defects, photophobia
  44. Acute Myocardial Infarction (effect)
    ***Plasma Markers:

    • CK-MB
    • AST
    • LDH
    • Troponin I and T
    • Myoglobin
  45. Bone Disease/Liver Obstruction (Effect)
    ***Plasma markers:

    ALP (Alkaline Phosphatase)
  46. Liver Damage (Effect)
    ***Plasma Markers:

    • ALT (alanine transaminase)
    • AST (aspartate transaminase aka SGOT)
    • GGT (gamma-glutamyl transpeptidase)
    • ALP (only in cirrhosis)
  47. Prostate Cancer/Other Cancers (effect)
    Plasma Markers:

    Prostate specific antigen, specific proteins 
  48. Acute Pacreatitis (definition)
    Inflammation of the pancreas
  49. Acute Pancreatitis (Cause and Effect)
    • Cause:
    • -premature proteolytic activation of digestive enzymes

    • Effect:
    • -*Plasma Markers:
    • Amylase
    • Lipase
  50. Huntington's (definition)
    Mutant form of the Huntington protein binds and inhibits CBP protein activity
  51. Huntington's (Cause and Effect)

    • -Dominant- Negative loss of function mutation 
    • -polyglutamin tract due to 5-CAG-3 repeat expansion

    • Effect:
    • -Mutant protein clumps and disrupts function leading to nueron cell death
  52. Androgen Insensitivity Syndrome (definition)
    Low androgen receptor function
  53. Androgen Insensitivity Syndrome(Cause and Effect)
    • Cause:
    • -mutation of androgen receptor gene causing loss of function 

    • Effect:
    • -low response to dihydrotestosterone
  54. Systemic Lupus Erthamatosis (definition)
    Autoimmune disease in which auto antibodies react with the U1 RNA component of the spliceosome
  55. Systemic Lupus Erthematosis (cause and effect)
    • Cause:
    • -Autoimmune disorder in genes

    • Effect:
    • -Prevents normal splicing of mRNA in some genes
    • -Fatigue, arthritis, fever, skin rashes, kidney problems
  56. Beta Thalasemmia (definition)
    Beta globin gene makes additional splice sites in mRNA
  57. *Beta Thalassemia (Cause and Effect)
    • Cause: 
    • -Gene mutation

    • *Effect:
    • -Abnormal beta globin protein
  58. Limb Girdle Muscular Dystrophy (definition)
    shorter calpain 3 mRNA that is missing exon 16 codons
  59. Limb Girdle Muscular Dystrophy (cause and effect)
    Gene mutation that causes defective protein synthesis
  60. Respiratory Distress Syndrome (definition)
    difficulty breathing due to surfactant deficiency
  61. Respiratory Distress Syndrome (cause and effect)***
    • Cause:
    • -low synthesis of surfactant
    • -defect in ABC transporter
    • -cell damage

    • Effect:
    • decreased amount of dipalmitoyl phosphatidyl choline (DPPC) secreted by Type II Alveolar Cells
  62. Cystic Fibrosis (definition)
    genetic defect in cystic fibrosis transmembrane  conductance regulator (CFTR)
  63. Cystic Fibrosis (Cause and Effect)
    • Cause:
    • -Genetic Mutation

    • Effect:
    • -Dehydration of respiratory and mucousal lining leading to thick mucous, diagnostic sweat test on forehead
  64. Kwashiorkor (definition)
    Edema caused by insufficient protein in diet
  65. Kwashiorkor (cause and effect)
    • Cause:
    • -Albumin produced in the liver is needed for specific transport and regulation of osmolality

    • Effect:
    • - plump belly
  66. Primary lactose intolerance (definition)
    Inability to digest lactose after certain age
  67. Primary Lactose Intolerance (Cause and effect)
    • Cause:
    • -low lalactase enzyme synthesis

    • Effect:
    • -bloating and diarreah after ingestion of lactose
  68. Congenital lactase deficiency (definition)
    congenital inability to digest lactose
  69. Congenital lactase deficiency (cause and effect)
    • Cause:
    • -Autosomal recessive disorder where no lactase is made

    • Effect:
    • - can't consume normal milk as an infant
  70. Cholelithiasis (definition)
    Cholesterol gallstone disease
  71. Cholelithiasis (cause and effect)
    • Cause:
    • - decreased bile acids and phosphatidylcholine or increased biliary cholesterol secretion

    • Effect:
    • -gallstone
  72. steatorrhea (definition)
    excess lipid in feces
  73. steatorreah (cause and effect)
    • Cause:
    • -lack of bile acids
    • -defects in pancreatic enzymes
    • -defective mucosal cells related to nutrient uptake
    • -shortened bowel

    • Effect:
    • -loss of lipids and lipid soluble vitamins (D,A,K,E)
    • -strong smelling feces 
    • -loss of vitamin A leads to night blindness
  74. phenylketonuria (definition)
    accumulation of phenylalanine(or phenylpyruvate) in  blood
  75. phenylketonuria (cause and effect)
    • Cause:
    • -genetic defect in the gene coding for phenylalanine hydrolase

    • Effect:
    • -can cause mental retardation, failure to walk or talk, seizures, hyperactivity, tremors, microcephaly, and failure to grow and thrive
  76. Maple Syrup Urine Disease (definition)
    Accumulation of branched chain amino acids and their toxic derivatives in the blood
  77. Maple syrup urine disease (cause and effect)
    • cause:
    • -deficiency of branched chain alpha keto acid dehydrogenase, an enzyme that decarboxylates the branched chain amino acids

    • effect:
    • -urine smells like maple syrup or burnt sugar.
    • -metabolic acidosis
  78. Thiamine Deficiency (effect)
    • Effect:
    • -results in the inability of PDH complex (E1) to decarboxylate pyruvate
    • -it is anapoenzyme with no thiamine pyrophosphate cofactor bound (TPP)

    -mild deficiency manifests as GI complaiants, weakness and burning feet sensation

    severe deficiency results in Beri Beri and Wernike-Korsakoff syndrome
  79. Dry Beri Beri (definition)
    Thiamine deficiency presenting without edema
  80. Dry/wet Beri Beri (cause and effect)
    • Cause:
    • -thiamine deficiency

    • Effect:
    • -inability of PDH to decarboxylate pyruvate because PDH is missing the cofactor TPP
    • -results in advanced neuromuscular and cardiovascular disorders
    • -delirium
    • -muscle weakness and atrophy
    • -memory loss
    • -opthalmoplegia
    • -peripheral vasodilation
    • -increased venous returnto the heart
  81. Wet Beri Beri (definition)
    Thiamine deficiency presenting with edema
  82. Wernicke Korsakoff Syndrome (definition)
    Thiamine deficiency associated with chronic alcohol abuse
  83. Wernicke Korsakoff syndrome (cause and effect)
    • Cause:
    • -thiamine deficiency due to alcohol abuse

    • Effect:
    • Initial/acute phase - delirium, mental derangement, ataxia, ophthalmoplegia

    • late/chronic phase - anterograde amnesia, distinct pattern ofbrain damage (focal lesions)
    • -this is also known as theirreversible stage

    Dx - urinary thiamine excretion, transketolase (thiamine dependant enzyme) activity in RBC/whole blood before/after addition ofTPP and lactate/pyruvate levels post oral glucose load

    Treatment - thiamine injection intramuscularly for 3 days then orally.  (before late stage)
  84. Leigh's disease (definition)
    severe congenital abnormality of PDH complex
  85. Leigh's disease (cause and effect)
    • Cause:
    • -Genetic mutation

    • Effect: 
    • -accumulation of pyruvate, lactate, alanine, and alpha ketoglutarate
    • -mental retardation
  86. Carnitine Acyl Transferase II Deficiency
    Deficiency in CAT II (CPT II)
  87. Carnitine Acyl Transferase II Deficiency (cause and effect)
    • Cause:
    • -genetic disorder in generating CPT II 

    •  Effect:
    • -in infants, hypoglycemia, hypoketosis, hepatomegaly, and cardiomyopathy
  88. Jamaican Vomiting Sickness (definition)
    Violent comiting after eating unripe ackee tree fruit
  89. Jamaican vomiting sickness (cause and effect)
    • Cause:
    • -fruit contains hypoglycin, a strong irreversible inhibitor of medium/short acyl CoA dehydrogenases

    • Effect:
    • -low rates of beta oxidation thus causing cells to rely on carbohydrates as a main source of fuel leading to hypoglycemia
  90. MCADD (definition)
    medium chain acyl CoA dehydrogenase deficiency
  91. MCADD (cause and effect)
    • Cause:
    • -genetic inborn error

    • Effect:
    • -hypoglycemia because beta oxidation is impaired
  92. Pernicious Anemia (definition)
    decrease in red blood cells that occurs when your intestines cannot properly absorb vitamin B12 because there is a lack of intrinsic factor.
  93. Pernicious Anemia (effect)
    • effect:
    • -can't absorb B12 and so Methylmalonyl CoA mutase can't function (neede for propionyl CoA digestion)
    • -thus decreasing hematopoieses
  94. Zellweger Syndrome (definition)
    Defect in biogenesis of perozisomes in all tissues
  95. Zellweger's Syndrome (cause and effect)
    • Cause:
    • -genetic defect

    • Effect:
    • -very long chain fatty acids (VLCFA) accumulate 
    • -effects the liver and the brain
  96. Refum's Disease (definition)
    Impaired alpha oxidation of fatty acids
  97. Refum's disease (cause and effect)
    • Cause:
    • -autosomal recessive genetic defect for peroxisomes

    • Effect:
    • -accumulation of phytanic acid
    • -neurological issues
  98. Pyruvate Kinase Deficiency (definition)
    deficiency of Pyruvate Kinase
  99. ***Pyruvate Kinase deficiency (cause and effect)
    Cause: genetic defect

    • Effect:
    • -hemolytic anemia
    • --mature RBC's lack mitochondria, they are completely reliant on glycolysis for ATP.
    • --ATP is used to maintain proper electrolyte concentrations
    • --pyruvate kinase deficiency will cause cell to rupture because of decreased ATP synthesis
  100. G6P Dehydrogenase Deficiency (definition)
    deficiency of G6PDH
  101. G6PDH deficiency (cause and effect)
    • Cause:
    • -X-linked recessive disorder

    • Effect:
    • -decreases the cellular reduced glutathione pool
    • --GSH is a major antioxidant in RBCs 
    • ---required for maintenance of SH groups in proteins

    -decrease in detoxification of free radicals and peroxisomes in formed cells

    -most severe in RBC's because pentose phosphate pathway is the only pathway generating NADPH in RBC's
  102. G6PDH deficiency (mechanism)
    • oxidave stress (infections/favabeans/antimalarials/sulfa drugs)
    • --> GSH converted to GS-SG for detoxification of oxidants
    • --> increased requirement of NADPH to convert oxidized glutathione to the reduced form GSH 

    • 2 outcomes:
    • A)
    • -->oxidants accumulate because deficiency in NADPH production
    • --> damage of fatty acids containing double bonds (cell membrane)
    • --> cell lysis
    • B)
    • --> denaturation of proteins due to GSH depletion
    • --> formation of heinz bodies in RBC's
  103. LHON (definition)
    Leber Hereditary Optic Neuropathy
  104. LHON (cause and effect)
    • Cause: 
    • -mutation of mitochondrial NADH dehydrogenase (Complex I)

    • Effect:
    • - acute optic atrophy
  105. MERRF (definition)
    Myoclonic Epilepsy and Ragged Red Fiber Disease
  106. Myoclonic Epilepsy and Ragged Red Fiber Disease (MERRF) (cause and effect)
    • Cause:
    • -mutation in mitochondrial tRNA-lys

    • Effect:
    • -disrupts synthesis of proteins essential for oxidative phosphorylation
    • -causes myoclonic epilepsy and ragged red fibers
    • -causes dementia
  107. MELAS (definition)
    Mitochondrial myopathy, Encephalomyopathy, Lactic Acidosis, and Stroke like episodes
  108. MELAS (cause and effect)
    • Cause:
    • -mutation in mitochondrial tRNA-leu

    • Effect:
    • -in name
    • --mitochondrial myopathies, encephalopathy, lactic acidosis, stroke like episodes
  109. Aminoglycoside Induced Deafness (definition)
    Administration of aminoglycoside drug leading to deafness
  110. Aminoglycoside induced deafness (cause and effect)
    • Cause:
    • -mutation in mitochondrial 12s rRNA and tRNA-ser

    • Effect:
    • -deafness
  111. *Von Gierke's Disease (definition)
    Type I glycogen storage disease 

    effects LIVER and KIDNEYS
  112. Von Gierke's disease (cause and effect)
    • Cause:
    • -deficiency in glucose 6 phosphatase Type Ia (or glucose 6 phosphate translocase Type Ib)

    • Effect:
    • -high glycogen amount in the liver and the kidneys
    • -normal glycogen structure
    • -hepatonephromegaly
    • -severe fasting hypoglycemia
    • -lacticacidemia
    • -hyperuricemia
    • -hyperlipidemia
    • -progressive renal disease

    • Organs Effected:
    • Liver- severe hypoglycemia
    • hepatomegaly
    • kidney disease
    • early death if untreated
    • treated by ingesting uncooked corn starch meal at night
  113. *Pompe's Disease (definition)
    Type II glycogen storage disease

    effects LIVER and MUSCLE and HEART
  114. Pompe Disease (cause and effect)
    • Cause: 
    • -defective glycogen degradation in lysosome by acid maltase (alpha (1->4) glucosidase). 

    • Effect:
    • -lysosomal glygogen accumulation in heart, muscle, and liver
    • -in severe cases lysomes can rupture
    • -it is a glycogen storage disease, a lysosomal storage disease, and a muscular disease
    • -weakness, progressive neuromuscular disorder
    • -normal blood glucose levels

    • infantile form is most severe
    • -massive cardiomegaly, myopathy, hypotonia, hepatomegaly
    • -cytosolic amount of glycogen is normal and has normal structure
    • -early death in first year

    • Late onset:
    • -breathing problems

    treated by enzyme replacement therapy
  115. *Cori Disease (definition)
    Type III glycogen storage disease

    effects LIVER and MUSCLE
  116. Cori Disease (cause and effect)
    • Cause:
    • -abnormal glycogen degradation due to deficiency of debranching enzyme
    • -cannot cleave limit dextrin

    • Effect:
    • -abnormal glycogen structure with short outer branches 
    • -mild hypoglycemia, 
    • -muscle weakness and hepatomegaly, cardiomyopathy
  117. *Andersen's disease
    Type IV glycogen storage

    effects LIVER and MUSCLE
  118. Andersens Disease (cause and effect)
    • Cause:
    • -abnormal glycogen synthesisdue to deficiency of glycogen branching enzyme
    • -branching enzyme normally forms a1-6 glucose bonds to form the glycogen branches

    • Effect:
    • -abnormal glycogen structure, long glucose chains with less branches
    • -leads to scarring by the body's immune system
    • -infantile hypotonia
    • -infantile liver cirrhosis
    • -death by 5 years of age
  119. *McArdle's Syndrome (definition)
    Type V glycogen storage disease

    effects ONLY MUSCLE
  120. McArdle's Syndrome (cause and effect)
    • Cause:
    • -abnormal glycogen degredation in muscle due to deficiency in muscle phosphorylase

    • Effect:
    • -child appears tired/unmotivated for physical activity
    • -temporary weakness and muscle cramping after exercise
    • -can display rhabdomyolysis after forced exercise because of lack of ATP
    • -Serum CK-MM is increased
    • -NO raise in blood lactate after strenuous exercise as glycogen degradation is reduced
    • -high levels of glycogen with normal structure in muscle
    • -myoglobinemia and myoglobinuria
  121. *Her's Disease (definition)
    Type VI glycogen storage

    effects LIVER
  122. Hers Disease (cause and effect)
    • Cause:
    • -Abnormal glycogen degradation in the liver due to a deficiency of hepatophosphorylase.

    • Effect:
    • -hepatomegaly and growth retardation
    • -mild fasting hypoglycemia
    • -high levels of glycogen with normal structure in the liver
    • -less severe than Von Gierke's because gluconeogenesis is still functioning
  123. *Tarui's Disease
    Type VII glycogen storage disease

    effects MUSCLE and RBC's
  124. Tarui's Disease (cause and effect)
    • Cause:
    • -reduced activity of PFK-1 of the M isotype

    • Effect:
    • -clinically similar to McArdle's disease leadingto cramping
    • -hemolysis is found due to 50% PFK-1 deficiency in RBC
  125. *Hereditary Fructose Intolerance (definition)
    Inability to digest fructose
  126. Hereditary fructose intolerance(cause and effect)
    • Cause:
    • -deficiency of aldolase B in liver

    • Effect:
    • -ingestion of sucrose or fructose results in trapping of fructose 1 phosphate in liver cells
    • -this leads to trapping of Pi which results in ATP deficiency, thus inhibiting gluconeogenesis
    • -trapping of Pi also inhibits glyconeogenesis
    • -this results in hypoglycemia


    -urine analysis reveals that there is reducing sugar that is not glucose(fructose) present
  127. *Essential Fructoseuria (definition)
    Inability to convert fructose to F1P
  128. Essential Fructosuria (cause and effect)
    • Cause:
    • -deficiency of enzyme fructokinase in liver

    • Effect:
    • -after eating sucrose, fructose is not metabolized and is excreted in the urine
    • -there are no toxic metabolites of fructose that accumulate in the liver thus they are asymptomatic
    • clinitest will reveal that there is presence of a reducing sugar that is not glugose or galactose in the urine
  129. *Non-classical Galactosemia (definition)
    • Galactokinase deficiency
    • Inability to convert galactose to gal-1-P
  130. Non-classical galactosemia (cause and effect)
    • Cause:
    • -galactosekinase deficiency

    • Effect:
    • -no accuulation of galactose 1-phosphate thus no developmental delay and no liver manifestations
    • -manifestations are less severe than glassical galactosemia
    • -urine is positive for galactose
  131. *Classical Galactosemia (definition)
    • -Gal-1-P Uridyl transferase deficiency 
    • -Inability to make UDP-Gal
  132. Classical galactosemia (cause and effect)
    • Cause:
    • -deficiency in gal-1-phosphate uridyl transferase

    • Effect:
    • -results in the accumulation of galactose and Gal-1-P in liver and other tissues
    • -accumulation in liver decreases rates of gluconeogenesis and glycogenolysis (due to trapping of Pi), resulting in profound hypoglycemia on feeding galactose or lactose
    • -accumulation is toxic and deranges liver function causing hepatomegaly and jaundice


    -gal-1-P accumulates in the lens, results in the formation of galacticol ehich is osmotically active, increases the water content of lens, causing cataracts or opacity of the lens

    -gal-1-P accumulates in the brain resulting in neurological damage and some learning disability in children

    -tested via heelprick right after birth, which measures levels of galactose or gal-1-P or activity of fal-1-P uridyl transferase

    -urine test detect presence of galactose
  133. *Osteoarthritis (definition)
    Chronic disease of joints
  134. Osteoarthritis (cause and effect)
    • Cause:
    • -involves damage to the functioning extracellular matrix

    • Effect:
    • -Degeneration of joints
  135. *Rheumatoid Arthritis (definition)
    Chronic autoimmune disease
  136. Rheumatoid Arthritis(cause and effect)
    • Cause: 
    • -involves dammage to the functioning ECM

    • Effect:
    • -autoimmune destruction
  137. *Scurvy (definition)
    Instable collagen due to poor hydroxylation
  138. *Scurvy (C/E)
    • Cause:
    • -Lack of vitamin C which is coenzyme for prolyly/lysyl hydrogenase

    • Effect:
    • -Bleeding gums, hemorrhages, poor wound healing
  139. *Ehlers Danlos Syndrome (definition)
    defect in collagen synthesis
  140. *Ehlers Danlos Syndrome (C/E)
    • Cause:
    • -Genetic defects in hydroxylases/oxidases/peptidases

    • Effect:
    • -Hypermobile joint, fragile skin/vessels
  141. *Osteogenesis Imperfecta (definition)
    Abnormal collagen formation leading to weak bones
  142. *Osteogenesis Imperfecta (C/E)
    • Cause:
    • -Mutation of type Ia1 or Ia2 gene
    • -Dominant- Negative loss of function mutation

    • Effect:
    • -Weak and brittle bones
  143. *Osteogeneses Imperfecta tarda (definition)
    Osteogenesis Imperfecta Type I
  144. *Osteogeneses Imperfecta tarda (C/E)
    • Cause:
    • -Genetic defect in collagen synthesis (usually type I)

    • Effect:
    • -Long bone fractures as infant, blue sclera, normal or near normal height possible hearing loss as adule
  145. *Osteogenesis Imperfecta Congenita (definition)
    Osteogenesis Imperfecta Type II
  146. *Osteogenesis Imperfecta Congenita (C/E)
    • Cause:
    • -Genetic defect in collagen synthesis (usually type I)

    • Effect:
    • -Death in utero or neonatal stage due to respiratory problems, underdeveloped lungs and small rib cage
  147. *Marfan Syndrome (definition)
    Mutation in fibrillin 1 protein gene that antagonizes the normal gene product
  148. *Marfan Syndrome (C/E)
    • Cause:
    • -Haploinsufficiency syndrome with fibrillin gene

    • Effect:
    • -Tall, slender, joints flexible, valve/aortic problems can lead to heart failure, defective eye and skeleton
  149. Alpha 1 Antitrypsin Deficiency (definition)
    Genetic deficiency of alpha 1 antitrypsin
  150. Alpha 1 Antitrypsin Deficiency (C/E)
    • Cause:
    • -Genetic Defect

    • Effect:
    • -Neutrophil elastase is unihibited and degrades elastin of the lungs leading to emphysema and liver injury 
  151. Hunter syndrome (MPS II) (definition)
    deficiency of iduronidase can't degrade heperan sulfate or dermatan sulfate
  152. Hunter syndrome (MPS II) (C/E)
    • Cause:
    • -X-linked genetic disorder

    • Effect:
    • -Coarseness of facial features, ear and respiratory problems, underdeveloped lungs and small rib cage
  153. Hurler Syndrome (MPS I) (definition)
    • -deficiency of Iduronidase sulfatase
    • -cant degrade heparan sulfate or dermatan sulfate
  154. Hurler Syndrome (MPS I) (C/E)
    • Cause:
    • -Genetic Defect

    • Effect:
    • -Coarseness of facial features, ear and respiratory problems, underdeveloped lungs and small rib cage + corneal clouding
  155. Sly/Sanfilippo/Maroteaux-lamy (definition)
    other types of Mucopolysaccharidosis
  156. Sly/Sanfilippo/Maroteaux-lamy (C)
    • Cause:
    • -Genetic defects
  157. *Tay Sach's Disease (definition)
    Shingolipidosis, deficiency of beta- hexosaminidase A
  158. *Tay Sach's Disease (C/E)
    • Cause:
    • -Genetic defect

    • Effect:
    • -Accumulation of GM2 (deficiency of the enzyme beta-hexosaminidase), cherry red macula, onion shell inclusions, weakness, seizures, blindness, death by 5
  159. Fabry's Disease (definition)
    sphingolipidosis, deficiency of alpha- galactosidase A
  160. Fabry's Disease (C/E)
    • Cause:
    • -X-linked genetic disorder

    • Effect:
    • -Accumulation of ceramide trihexoside in vascular endothelium, kidney failure, heart failure, stroke, anhidrosis, weakness, fatigue, angiokeratomas (red purple skin rash with bathing trunk distribution), acroparesthesia (burning lower extremities)
  161. Gaucher's Disease (definition)
    Sphingolipidosis, decifiency of beta-glucocerebrosidase
  162. Gaucher's Disease (C/E)
    • Cause:
    • -Genetic Defect

    • Effect:
    • -Accumulation of glucocerebrosides, crumpled tissue paper appearance of cytoplasm, retardation, adult form shows no brain damage but hepatosplenomegaly and long bone osteoporosis
  163. Niemann-Pick Disease (definition)
    Sphingolipidosis, deficiency of acid sphingomelinase
  164. Niemann-Pick Disease (C/E)
    • Cause:
    • -Genetic Defect

    • Effect:
    • -Accumulation of shingomyelin in spleen, liver, and brain 
    • -Type A: classic infantile, ab swelling, cherry macula, retardation, and death by  3
    • -Type B: visceral, chronic organ damage no neuro probs but live only to early adulthood 
  165. I-cell disease (definition)
    • -intracytosolic inclusions due to defective enzyme transport 
    • -deficiency of n-acetyl glucosamine-1-phosphotransferase
    • -aka mucolipidosis II
  166. I-cell disease (C/E)
    • Cause:
    • -Genetic Defect

    • Effect:
    • -Absence of mannose-6-P marker which is needed for lysosomal transport, similar defects as Hurlers, enlarged heart valves, restricted joint movement
  167. *GM1 gangliosidosis (definition and cause)

    Genetic Defect
  168. *Sndhoff's disease (definition and cause)

    Genetic Defect
  169. *Krabbe's Disease (definition and cause)

    Genetic Defect
  170. *Metachromatic leukodystrophy (definition and cause)

    Genetic Defect
  171. *Farber's Disease (definition and cause)

    Genetic Defect