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45 Cards in this Set
- Front
- Back
tay-sachs
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hexosaminidase A deficient, ganglioside accumulation
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gaucher's
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glucocerebrosidase deficient, glucocerebroside accumulation
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fabry's
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alpha-galactosidase A deficient, globoside accumulation
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niemann-pick
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sphingomyelinase deficient, sphingomyelin accumulation
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krabbe's
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galactocerebrosidase deficient, galactocerebroside accumulation
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glucose 6P DH deficiency
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acute hemolytic disease when given antimalarials, antipyretics or sulfa antibiotics- cannot produce enough NADPH-young blood cells can withstand until they age
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essential fructosuria
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fructokinase deficiency-fructose eventually metabolized
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hereditary fructose intolerance
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fructose 1P aldolase deficiency- severe hypoblycemia, accumulation of fructose 1P
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galactosemia
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unable to metabolize galactose from lactose-cataracts, MR, stunted growth and death from liver damage-accumulation of galactitol due to glactokinase(mild) or galactose 1P uridyl-transferase(severe) deficiency
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pentosuria
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xylulose reductase deficiency-reduces xylulose to xylitol-pentose in the urine
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crigler-najjar syndrome
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defect in glucuronide synthesis- nonhemolytic jaundice- glucuronic acid needed to excrete bilirubin
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aspartylglycosaminuria
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4L aspartylglycosylamine amidohydrolase deficiency-accumulation of aspartylglucosamine linked structures-skeletal abnormalities, hepatosplenomegaly, cataracts and MR
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antithrombin III deficiency
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resistance to the action of heparin(naturally occuring)-increased risk of thrombosis
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mucopolysaccharidoses
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lysosomal hydrolase deficiencies- accumulation of oligo's and proteoglycans
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Hurler's syndrome
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hydrolase deficiency- autosomal recessive, MR and skeletal abnormalities, early death if severe
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Hunter's syndrome
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hydrolase deficiency-X linked, skeletal abnormalities, MR early death if severe
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Sanfilippo's syndrome
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hydrolase deficiency- autosomal recessive, severe MR
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Morquio's syndrome
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impaired keratan sulfate degradation
type A- galactose 6-sulfatase deficiency type B- beta-galactosidase deficiency |
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Multiple sulfatase deficiency
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low activity of all sulfatases-lack of post-trans modification of cysteine
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acute pancreatitis
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associated with gallstones or alcohol abuse, inappropriate activation of zymogens resulting in cellular injury
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chronic pancreatitis
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same as acute with cumulative and permanent damage
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exocrine insufficiency
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due to alcoholism and CF in children-malabsorption of fat and protein because of insufficient bicarb release(lipases don't work in acidic conditions), Vitamin B12 deficiency because proteases can't cleave R protein-use cimetidine to block gastric acid secretion
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PDH deficiency
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usually an E1 problem-X linked,increase in lactate, alanine and pyruvate with neuro defects and death if severe-tested with enzyme assays of various tissues-treated with dichloroacetate which inhibits the kinase and increases PDH function
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arsenic poisoning
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affects enzymes using lipoic acid-PDH, alpha KG DH, alphaketoacid DH
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fumarase deficiency
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glutamate at residue 319 replaced by glutamine-neuro impairment, dystonia and encephalomyopathy-increased urine levels of succinate, alpha KG , citrate and malate
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Leber's optic neuropathy
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single base change in mit. genes for complex I of ETC-sudden onset blindness due to death of optic nerve, if more severe there is dystonia(impaired movement, speech and MR)
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myopathies
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mutations in tRNA genes-decreased activity of ETC complexes I and IV, abnormal CNS
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cytochrome b mutation
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lower ETC complex III activity-exercise intolerance, resting lactic acidosis, only in muscle-treat with vitamins K and C which oxidize NADH and reduce cytochrome c to bypass complex III
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disaccharide intolerance
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loss of brush border enzymes-due to disease, malnutrition or drugs, temporary due to diarrhea
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lactose intolerance
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lactase deficiency-lactose digested by bacteria, 90% prevalence in asians and african americans
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isomaltase-sucrase deficiency
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sucrose intolerance-10% in eskimos, 2% in north americans
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most common genetic defect causing hemolytic anemia
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pyruvate kinase deficiency-mature RBC's need ATP to maintain shape
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pyruvate carboxylase deficiency
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lactic acidosis, increase in lipids, pyruvate and alanine-OAA cannot be made, usually die young or have severe MR-need glutamin or asparagine to cross BBB
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hereditary fructose intolerance
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F-1P aldolase deficiency-severe hypoglycemia, F1P accumulation, glucokinase increase-cells swell and lyse because of gradient deficiency(no ATP)
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Von Gierke's disease
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most common glycogen storage disease(type I), due to Glucose 6 phosphorylase deficiency, autosomal recessive, hypoglycemia, lactic acidemia, hyperlipidemia, gouty arthritis, treated with carbs
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Pompe's disease
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Type II, no alpha-1,4-glucosidase in lysosomes-take up but cannot degrade glycogen(defective)-cardiomegaly and death from heart failure
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Cori's disease
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Type III, debrancher deficiency-hepatomegaly, milder symptoms similar to Von Gierke's
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McArdle's disease
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Type IV, no muscle phosphorylase-cramps, increase lactate in muscle, creatine, aldolase and myoglobin
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acute hemolytic disease
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glucose 6P DH deficiency-induced by antimalarials and antibiotics, can't make enough NADPH to reduce glutathione-damage to RBC membranes
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steatorrhea
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fat absorption/digestion disorders-increase in fecal lipid-in CF there is poor digestion, in shortened bowel there is decreased absorption
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Zellweger's syndrome
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defect in peroxisomal assembly-accumulation of VLCFA's and neuro defects
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Adrenoleukodystrophy
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defect in peroxisomal activation of VLCFA, X linked, accumulation of VSCFA
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Refsume disease
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lack of enzymes that break down branched FA's-phytanic acid accumulates, neuro defects
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myopathic carnitine deficiency
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only in muscle, still able to make ketones-defect in carnitine transport, not responsive to carnitine therapy
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systemic carnitine deficiency
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failure to synthesize carnitine-several tissues involved, increase in serum and liver enzymes, increase in FA's, no ketones-responsive to carnitine therapy
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