Biochem

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Author:
xury2000
ID:
20216
Filename:
Biochem
Updated:
2010-05-22 23:28:27
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biochem
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Biochemistry USMLE 1
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  1. Orotic Aciduria
    • No Orotic Acid Phosphoribosyltransferase
    • Or
    • No Orotidine 5 phosphaste decarboxylase

    Megaloblastic anemia (B12 and folic acid doesn't help), Increased Oritic Acid, No Hyperammonia
  2. Hyperelastic skin
    Tendency to Bleed
    HyperMobile Joints
    Ehlers Danlos Syndrome

    Type I and III collage synthesis problems

    Berry aneurysms, organ rupture,
  3. Mutltiple Fractures
    Blue Scelera
    Hearing Loss
    Dental problems
    Osteogensis Imperfecta

    Due to problmes in type I collagen formation

    Autosomal Dominant
  4. Nephritis
    Deafness
    Ocular Disturbances
    Alport Syndrome

    Type IV collagen problem

    X-linked recessive
  5. Two common Elastin problems
    • Marfan Syndrome-defect in Fibrillin
    • Emphysema-lacked of alpha-antitrypsin
  6. X-linked dominent Disorder
    Hypophosphatiemic Rickets-increased phosphate wasting at proximal tubule
  7. Leber Hereditary Optic Neuropathy
    • Degeneration of retinal ganglion cells
    • Acute loss of Central Vision
    • Mitochondria inheritance
  8. Autosomal Dominent Disorders
    • Achondroplasia
    • ADPKD
    • Familial Adenomatous Polyposis
    • Femilial Hypercholesterolemia
    • Hereditary Hemorrgic Telangiectasia
    • Heriditary Sperocytosis
    • Huntington's Disease
    • Marfan Syndrome
    • Multiple Endocrine Neoplasia
    • Neurofibromatosis type 1
    • Neurofibromatosis type 2
    • Tuberous scelerosis
    • Von Hippel Lindau Disease
  9. Short Limbs
    Head and trunk normal size
    • Deficient in fibroblast Growth Factor receptor 3 (FGF)
    • Associated with advanced paternal age
  10. Bilateral massive enlargement of kidneys
    Hematuria
    Berry Aneurysms
    Mitral Valve Prolapse
    • Autosomal dominant polycystic kidney disease
    • Chromosome 16
    • Mutation in APKD1 gene
  11. Familial Adenomatous Polyposis
    • APC gene
    • Chromosome 5
  12. Achilles Tendon Xanthomas
    Cholestrol > 700
    Familial Hypercholesterolemia
  13. Recurrent Epitaxis
    Skin Discolorations
    Ateriovenous Malformations
    Small Dilated blood vessels on skin
    • Heriditary Hemorrhagic Telangiectasia
    • Telangiectasia seen
  14. Round RBC
    • Hereditary Spherocytosis
    • Lack Spectrin or Ankyrin
  15. Involuntary rapid jerky movements
    Caudate Atrophy
    • Huntington Disease
    • CAG repeat disorder
    • Decreased levels of GABA and ACH
    • Chromosome 4
    • "Hunting 4 food"
  16. Tall individual
    Long arms and hands
    Long, tapering fingers
    Hollowed Chest
    • Marfan Syndrome
    • Fibrillin Gene mutation-affects connective tissue
    • Pectus Excavatum
    • Cystic Medial Necrosis of Aorta
    • Dissecting Aortic Aneurysm
    • Floppy Mitral Valve
    • Subluxation of Lense
  17. Tumors in:
    Pancrease, parathyroid, pituitary, thyroid, adrenal medulla
    • Multiple Endocrine Neoplasia
    • Ret Gene
  18. Light brown colored Spots on skin
    Pigmented Iris Hemartoma
    Neural tumor
    • Neurofibromatosis I
    • Scoliosis
    • Lisch Nodules (pigmented iris Hemartoma)
    • Optic Glioma
    • pheochromocytoma
    • Chromosome 17
  19. Bilateral Neutral Neuroma
    Cataracts
    • Neurofibromatosis type II
    • NF2 gene
    • chromosome 22
  20. Hypopigmented spots on skin
    Cortical Hamartoma
    Seizures
    Cardiac Rhabdomyomas
    • Tuberous Sclerosis
    • Retinal hamartoma
    • Renal Cyst
    • Renal Angiomyolipoma
    • Mental Retardation
  21. Hemangioblastoma of retinal
    Hemangioblastoma of cerebellum
    • Hemangioblastoma of medulla
    • Bilateral Renal Carcinoma
    • Deletion of VHL gene on Chromosome 3
    • "3 words for chromosome 3"
  22. Thick Mucus
    Cl- elevated in the sweat
    Recurrent pulmonary infections
    • Cystic Fibrosis
    • CFTR gene on chromosome 7
    • CFTR normally secretes Cl- in lungs/GI and absorbs Cl- from sweat
    • Mutation causes abnormal protein folding leading to degradation before it reaches cell surface
    • Chronic Bronchitis, Bronchiectasis
    • Prancreatic Insufficiency leading to Fat soluble vitame D, A, K , E deficiency
  23. X-linked Recessive
    Female carriers rarely affected due to inactivation of X chromosome
    • Be Wise, Fool's GOLD Heeds Silly Hope
    • Bruton's Agammaglobulinemia
    • Wiskott Aldrich
    • Fabry
    • G6PD deficiency
    • Ocular Albinism
    • Lesch Nyhan
    • Duchenne and Becker
    • Hunter's Syndrome
    • Hemophilia A and B
  24. Weakness in pelvic girdle muscles
    Hypertrophy of Calf Muscles
    Uses Hands to help stand up
    Increased CPK
    • Duschenne's Muscular Dystrophy
    • Deletion of Dystrophin Gene->muscles can't anchor->muscle breakdown
    • Cardiac Myopathy
    • Becker's Muscle Dystrophy=much milder
  25. Enlarged Testes
    Large everted ears
    Large Law
    Long Face
    • Fragile X Syndrome
    • FMR1 Gene
    • Macro-orchidism (enlarged testes)
    • Mitral valve prolapse
  26. Triplet Repeat Disorders
    • Hunting's Disease (CAG)
    • Myotonic Dystrophy (CTG)
    • Fragile X (GGG)
    • Friedreich's Ataxia=GAA
  27. Down's Syndrome Features
    • Flat Face
    • Epicanthal Folds
    • Palmar Crease
    • Duodenal Atresia
    • Septum Primum ASD
    • Inreased Alzheimer Disease
  28. Clenched Fist
    Small jaw
    • Trisomy 18 "Election age is 18"
    • Edward's Sydrome
    • Micrognathia (small jaw)
    • Rocker bottom feet
    • low set ears
    • congeital hear defect
  29. Cleft Lip
    Extra finger
    • Trisomy 13 "Pubery at 13"
    • Patau's syndrome
    • Mental Retardation
    • rocker bottom feet
    • small head
    • Cleft palate
    • No forebrain (holoprosencephaly)
  30. Deletion of short arm of chromosome 5
    High pitched crying
    • Cri-du-cat syndrome
    • Small head
    • Picanthal Folds
    • Cardiac Abnormality
    • Mental Retardation
  31. Deletion of long arm of chromosome 7
    Elf Face
    Hypercalcemia
    • William's Syndrome
    • Hypercalcemia-due to increased sensitivity to vit. D
    • Good verbal skills
    • extreme friendliness with strangers
    • Cardio problems
  32. Chromosome 22 microdeletion
    • CATCH 22
    • Cleft palate
    • Anormal Face
    • Thymic asplasia->T cell deficiency
    • Cardiac Defect
    • Hypocalcemia-due to parathyroid aplasia
  33. DiGeorge syndrome
    • Thymic Aplasia
    • Parathyroid Aplasia
    • Cardiac Problems
    • Chromsome 22
  34. Velocardiofacial Syndrome
    • Palate Defect
    • Face Defect
    • Cardiac Defect
    • Chromosome 22
  35. Hartnup Disease
    • Defective Neutral amino acid Transport on renal cells and GI cells
    • Tryptophan Excretion in urine
    • Leads to Pellagra-> since niacin is made from tryptophan
  36. Increased alpha-ketoacids in blood
    • Maple Syrup Disease
    • Due to decreased alpha-ketoacid dehydrogenase
    • AA include: Isoleucine, Leucine, Valine
  37. Glucose 6 phosphatase deficiency
    • Von Gierke Disease
    • Increased Glycogen in liver
    • Increased blood lactate
    • Hepatomegaly
  38. Lysosomal alpha-1-4-glucosidase Deficiency
    • Pompe's Disease
    • Cardiomegaly
    • "Pompe trashes the pump"
  39. Decreased alpha-1,6 Glucosidase
    • Cori's Disease
    • Increased glycogen in liver
    • Normal Lactate levels (unlike von gierke)
    • 4 glucose residues in branched configuration (limit Dextran)
  40. Muscle Cramps with excercise
    Increased glycogen in Muscle
    • McArdle's Disease
    • Skeletal muscle glycogen Phosphorylase Deficiency
    • Myoglobinuria with excercise
  41. Ceramide Accumulates
    • Fabry's Disease
    • X-linked recessive
    • Alpha-galactosidase A deficiency
    • Peripheral neurpathy of hands and Feet
    • Angiokeratomas
  42. Glucocerebroside Accumulates
    Necrosis of Femur with no bacteria in blood
    • Gaucher's Disease
    • B-Glucocerebrosidase Deficiency
    • Macrophages that look like crumpled tissue paper
  43. Sphingomyelin Accumulation
    • Nieman Pick Disease
    • Sphingomyelinase deficiency
    • Cherry Red Spot on macula
    • Neurodegeneration
    • Hepatospenomegaly
    • Foam Cells
  44. GM Ganglioside accumulates
    • Tay-Sach Disease (tay-saX)
    • Hexoaminidase A deficiency
    • Cherry Red Spot
    • Neurodegeneration
    • No hepatospenomegaly (unlike niemann pick)
  45. Galactocerebroside Accumulates
    • Krabbe's Disease
    • Galactocerebrosidase deficiency
    • Peripheral Neuropathy
    • Optic Atrophy
    • Globoid Cells
  46. Cerebroside Sulfate Accumulation
    • Metachromatic Leukodystrophy
    • Arylsulfatase A deficiency
    • Central and peripheral demyelination
    • Ataxia
    • Dementia
  47. Alpha-L-iduronidase Dificiency
    • Hurler's Syndrome
    • Heperan Sulfate and Dermantan Sulfate Accumulate
    • Corenal Clouding (unlike hunter's)
    • Gargoylism
    • Airway Obstruction
  48. Iduronate Sulfatase Deficiency
    • Hunter's Disease
    • Heperan Sulfate and dermatan Sulfate accumulate
    • Aggressive Behavior
    • No corneal clouding (unlike hurler's)
    • "hunters have to see clearly)
  49. No Apo C II
    • Hyperchylomicronemia
    • Increased TG
    • Increased Cholestrol
    • Pancreatitis
    • Xanthomas (no risk for CAD)
    • Hepatospenomegaly
  50. Lipoprotein Lipase Deficiency
    • Hyperchylomicronemia
    • Increased Chylomicrons
    • Increased TG
    • Increased Cholestrol
    • Pancreatitis
    • Xanthomas (no risk for CAD)
    • Hepatospenomegaly
  51. no LDL receptors
    • Familial Hypercholestrolemia
    • Increased LDL
    • Elevated Cholestrol
    • Normal TG
    • Achilles Tendon Xanthoma
    • Corneal Arcus
    • Autosomal Dominant
  52. Hypertriglyceridemia
    • Increased VLDL
    • Increased blood TG
    • Hepatic Overproduction of VLDL
    • Causes Pancreatitis
  53. Accumulation of lipid in enterocytes
    • A-beta lipoproteinemia
    • Can't make apoB 100 (binds LDL, mediate VLDL secretion)
    • Can't make apoB 48 (mediates chylomicron secretion)
  54. Apo A-1
    • Activates lecithin cholesterol acyltransferase (LCAT)
    • Needed for the esterification of cholestrol
  55. ApoB-100
    Binds LDL to Mediate VLDL secretion
  56. Apo C II
    Activates Lipoprotein Lipase
  57. Apo B48
    Mediates Chylomicron Secretion
  58. Apo E
    Mediates Extra remnant uptake
  59. Glycine Products
    • Porphyrin -> Heme
    • Requires B6 (pyroxidine phosphate)
  60. Tryptophan Products
    • Niacin
    • Serotonin
    • Melatonin
    • Requires B6 (pyroxidine phosphate)
    • Requires BH4 (which requires dihydropterin reductase)
  61. Arginine Products
    • Nitric Oxide
    • Creatine
    • Urea
    • Requires dihydropterin reductase
  62. Glutatamate products
    • GABA (requires B6 and glutamate Decarboxylase)
    • Glutathione
  63. Obligate Aerobes
    • Nocardia
    • Pseudomonas Aeruginosa
    • M. Tuberculosis
    • Bacillus
    • "Nagging Pests Must Breath"
  64. Obligate Anaerobes
    • Clostridium
    • Bacteroides
    • Actinomyces
    • "Can't Breath Air"
  65. Obligate Intracellular
    • Rickettsia
    • Chlamydia
  66. Facultative Intracellular
    • Salmonella
    • Neisseria
    • Brucella
    • Mycobacterium
    • Listeria
    • Francisella
    • Legionella
    • "Some Nasty Bugs May Live FacultativeLy)
  67. Quellung Reaction
    • Indicates Encapsulated bacteria
    • Klebsiella Pneumonia
    • Salmonella
    • Streptococcus Pneumoniae
    • Haemophilus Influenzae B
    • Neisseria Meningitidis
    • "Kapsules Shield SHiN"

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