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2013-11-04 00:43:54

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  1. What is inheritance of G6PD defiency and what population is effected more often
    X-linked recessive; blacks
  2. What is NAD/NADP made form
    Niacin, 'Serotonin, melatonin
  3. What is osteogenesis imperfecta often confused with
    child abuse
  4. What is the biochemical defect in Metachromatic leukodystrophy and what is the inheritance pattern
    deficiency of arylsulfatase A;Autosomal recessive
  5. What is the biochemical defect in Nieman-Pick disease and how is it inherited
    deficiency of Beta glucocerebrosidase;autosomal recessive
  6. What is the biochemical effect of G6PD defiency
    decrease in NADPH which is necessary to reduce glutathione which in turn detoxifies free radicals and peroxides
  7. What is the cause of Cystinuria and what are the signs/symptoms
    inheritied defect o the tubular amino acid transporter for Cystine, ornithine, Lysine and Arginine in kidneys excess cystine in urine
  8. What is the cause of Fabry's disease and what is the common clinical problem
    Alpha-galactosidase Adeficiency; gives accumulation of ceramide trihexoside causing renal failure
  9. What is the cause of galactosemia?
    Absence of galactose-1-phosphate uridyltransferase;accumualtion of toxic substances (galactitol)
  10. What is the characteristic defect in Hurler's syndrome
    Alpha-L-iduronidase defiency leads to corneal clouding and mental retardation
  11. What is the characteristic findings in Neurofibromatosis
    Multiple café-au-lait spots,neurofibromas increased tumor susceptibilty
  12. What is the clinical picture of a patient with cystic fibrosis
    pulmonary infections,exocrine pancreatic insufficiency, infertility in men
  13. What is the clinical picture ofDuchenne's muscular dystrophy
    muscular weakness and degeneration
  14. What is the defect in Maple Syrup Urine disease
    decreased Alpha-ketoacid dehydrogenase. blocks degradation of branched amino acids Ile. Val. Leu
  15. What is the epidemiology oflactose intolerance
    Age-dependnet and/orhereditary (blacks and Asians)
  16. What is the etiology of Homocystinuria
    defect in cystathioninesynthase. Two forms: 1.deficiency 2. decreased affinity of synthase for pyridoxal phosphate(cofactor)
  17. What is the finding of Hunter's syndrome on H&P
    mild mental retardation but no corneal clouding
  18. What is the formula for Hardy-Weinberg equilibrium?
    p^2 +2pq + q^2 =1 and p+q=1
  19. What is the genetic mech. Of Cystic fibrosis and it's inheritance
    AR; multiple loss-of-function mutations in a chloride channel
  20. What is the genetic mechanism of Duchenne's muscular dystrophy
    X-linked recessive;caused by multiple loss-of-function mutations in a muscle protein
  21. What is the genetic mechanism of Fragile X MR
    X-linked; progressive expansion of unstable DNA causes failure to express gene-encoding RNA-binding protein
  22. what is the genetic mechanism of Neurofibromatosis
    AD, multiple loss-of function mutations in a signaling molecule
  23. What is the genetic problemin Down's Syndrome
    trisomy 21 chromosomal imbalance
  24. What is the inheritance of Krabbe's disease
    Autosomal recessive
  25. what is the inheritance pattern and carrier frequency in Tay-Sach's
    Autosomal recessive; 1:30 inJews of European descent and 1:300 in the general populaition
  26. What is the inheritance pattern of Ehlers-Danlos syndrome
    10 types of this syndrome Type IV-Auto Dominant Type VI-Auto Recessive Type IXX-linked recessive
  27. What is the inheritance pattern of Gaucher's disease
    Autosomal recessive
  28. What is the inheritance pattern of xeroderma pigmentosa
    autosomal recessive
  29. What is the inheritiance pattern of Fabry's disease
    X-linked recessive
  30. What is the lab symptoms of G6PD defiency
    Heinz Bodies: altered hemoglobin precipitate in RBC
  31. What is the most distinguishing finding in Tay-Sach's disease on Physical exam
    cherry red Macula; these patients die by 3
  32. What is the pathogneumonic cell type founde in Gaucher's disease
    Gaucher's cells with the characteristic 'crinkled paper'appearance of enlarged cytoplasm
  33. What is the pattern of inheritance of Leber's hereditary optic neuropathy?
    mitochondrial inheritance
  34. What is the phenotype in Osteogenesis imperfecta
    increased susceptibility to fractures;connective tissue fragility
  35. What is the phenotype of Down's syndrome
    Mental and growth retardation, dysmorphic features, internal organ anomalies especially heart problems
  36. What is the phenotype ofFragile X
    mental retardation,characteristic facial features,large testes
  37. What is the predominant problem in Ehlers-Danlos syndrome
    Faulty collagen synthesis
  38. What is the prevalance of cystic fibrosis
    1:2000 whites; very rare among Asians
  39. What is the prevalandce of Neurofibromatosis
    1:3000 with 50% being new mutations
  40. What is the prevalence of Down's syndrome and what are the risk factors
    1:800; increased risk with advanced maternal age
  41. What is the prevalence of Duchenne's musc. dys.
    1:300; 33% new mutations
  42. What is the prevalence of Fragile X- associated mental retardation
    1:1500 males: can be infeamales is a multi-stepprocess
  43. What is the prevalence of osteogenesis imperfecta
  44. What is the prevalence of Phenylketonuria
  45. What is the priamry defect in Fructose intolerance and how is it inherited?
    defiency of aldolase B,autosomal recessive
  46. What is the primary defect in Alkaptonuria
    congenital defiency of homogentisic acid oxidase in the degradative pathway of tyrosine
  47. What is the primary defect(s) found in Phenylketoneuria
    either 1.decreased phenylalanie hydroxylase or 2. decreased tetrahydrobiopterin cofactor
  48. What is the rate-limiting enzyme in the Hexose-Monophosphate shunt?
    Glucose-6-phosphate dehydrogenase
  49. What is the result of pyruvate dehydrognease deficiency
    backup of substrate (pyruvate and alanine) resulting in lactic acidosis
  50. What is the specific defect in Xeroderma pigmentosa
    defective excision repair such as uvr ABC exonuclease; have inability to repair thymidine dimer formed by UV light