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x M1 Biochem Term 2 Quiz 4 > Diseases for Final > Flashcards

Diseases for Final Flashcards

1
Q

Lactose Intolerance: Key Defect

A

Deficiency in lactase enzyme: breaks lactose into galactose and glucose.

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2
Q

Lactose Intol: Phenotype

A

Very common deficiency: diarrhea with lactose intake.

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3
Q

Glucose-6-phosphate dehydrogenase deficiency: Key Defect

A

G-6-Phosphate dehydrogenase deficiency: RBCs unable to run pentose phosphate pathway to make NADPH.

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4
Q

Glycose-6-phosphate dehydrogenase deficiency: Phenotype

A

Oxidative stress leads to hemolysis and hemolytic anemia, often due to drugs, infection or certain foods. Most other tissues (besides RBCs) have other pathways for NADPH production.

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5
Q

Von Gierkes Disease: Key Defect

A

G-6-Phophatase deficiency: Liver

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6
Q

Von Gierkes Disease: Phenotype

A

Large liver, fasting hypoglycemia, ketosis, hyperuricemia, hyperlipidemia

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7
Q

McArdle Syndrome: Key Defect

A

Glycogen phosphorylase deficiency: Muscle

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8
Q

McArdle Syndrome: Phenotype

A

Affects muscle, cramps after strenuous exercise but otherwise normal.

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9
Q

Andersen’s Disease: Key Defect

A

Defect in branching enzyme: Liver

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10
Q

Andersen’s Disease: Phenotype

A

Cirrhosis of liver: death before age 2.

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11
Q

Cori’s Disease: Key Defect

A

Defect in debranching enzyme: Musle and liver

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12
Q

Cori’s Disease: Phenotype

A

Similar to Van Gierkes, but less severe symptomatology.

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13
Q

LHON Leber’s hereditary optic neuropathy- Mitochondrial pathology: Key Defect

A

OxPhos/Mito disease. Bilateral optic atrophy that has been linked to a mutation in mitochondrial genome.

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14
Q

LHON Leber’s hereditary optic neuropathy- Mitochondrial pathology: Phenotype

A

OxPhos/Mito disease. Optic neuropathy: loss of central vision due to degeneration of the retinal ganglion cells and optic nerve axons.

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15
Q

MERRF - Mitochondrial pathology: Key Defect

A

OxPhos/Mito disease. Mitochondrial gene mutations: impaired ability to use oxygen or make proteins.

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16
Q

MERRF - Mitochondrial pathology: Phenotype

A

OxPhos/Mito disease. Late onset myopathy, “ragged red fibers,” epilepsy and ataxia. “Mycronic Epilepsy and Ragged Red Fiber Disease”

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17
Q

MELAS - Mitochondrial pathology: Key Defect

A

OxPhos/Mito disease. Mitochondrial gene mutations: likely involved in NADPH synthesis.

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18
Q

MELAS - Mitochondrial pathology: Phenotype

A

OxPhos/Mito disease. Enephalomyelopathy, lactic acidosis, stroke-like episodes. Progressive neurodegen disease. “Mitochondrial Encephalomyopathy, Lactic Acidosis and Strokelike Episodes”

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19
Q

Infant Respiratory Distress Syndrome: Key Defect

A

Defect in the synthesis of DPPC (dipalmitoyl-phosphatidylcholine)

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20
Q

Infant Respiratory Distress Syndrome: Phenotype

A

Insufficient surfactant production in neonatal lungs leads to respiratory distress syndrome, lung collapse.

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21
Q

Familial Hypercholesterolemia: Key Defect

A

Ineffective LDL receptors

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22
Q

Familial Hypercholesterolemia: Phenotype

A

High blood cholesterol, unable to take up cholesterol into cells.

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23
Q

Cholelithiasis (Gall Stones): Key Defect

A

Cholesterol precipitates and forms gallstones as a result of decreased bile salts.

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24
Q

Cholelithiasis (Gall Stones): Phenotype

A

Possible surgical removal of gall bladder necessary. Inability to perform adequate cholesterol excretion in bile.

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25
Q

Niemann-Pick Type A/B: Key Defect

A

Molecular lesion at lysosomal sphingomyelinase.

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26
Q

Niemann-Pick Type A/B: Phenotype

A

Accumulation of sphingomyelin, early onset in infancy and worse prognosis than Type C - early death. Cherry red macular spot due to accumulation of sphingolipids in retinal ganglion neurons.

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27
Q

Niemann- Pick Type C: Key Defect

A

Accumulation of unesterified cholesterol, sphingomyelin, phospholipids, and glycolipids within lysosomes of various organs, particularly the liver.

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28
Q

Niemann- Pick Type C: Phenotype

A

Progressive neurological disease, hepatic enlargement and liver damage. Fatal disease, appears in late childhood.

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29
Q

Tay-Sachs Disease: Key Defect

A

Inability to degrade gangliosides (cannot degrade GM2 to GM3), lysosomes become lipid-filled and fill neurons, leading to damage.

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30
Q

Tay-Sachs Disease: Phenotype

A

Death by age three, preceded by mental retardation, weakness and pathological changes in the nervous system and movement ability. Cherry red macular spot due to accumulation of sphingolipids in retinal ganglion neurons.

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31
Q

Gauchers Disease: Key Defect

A

Increased glucocerebrosides, block in degradation pathway of glycolipids.

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32
Q

Gauchers Disease: Phenotype

A

Liver and spleen enlargement, osteoporosis, mental retardation and frequently fatal.

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33
Q

Tangier’s Disease: Key Defect

A

Gene mutation in ABCA1 causing severe HDL deficiency.

34
Q

Tangier’s Disease: Phenotype

A

Large/orange tonsils, neuropathies, splenomegaly, hepatomegaly, LACK OF PLASMA HDL AND apoA100, low LDL, hypertriglyceridemia.

35
Q

Atheroschlerosis: Key Defect

A

Endothelial cells undergo inflammatory activation, formation of arterial foam cell due to effects of macrophages, foam cell secretes cytokines causing further damage and increased inflammatory response.

36
Q

Atheroschlerosis: Phenotype

A

Narrow arterial lumen due to plaque, fibrous intima, can cause thrombus formation and MI.

37
Q

Alkaptoneuria: Key Defect

A

Homogentisate oxidase deficiency - unable to degrade tyrosine.

38
Q

Alkaptoneuria: Phenotype

A

Dark Urine

39
Q

Maple Syrup Urine Disease (MSUD): Key Defect

A

Branched chain alpha-keto acid dehydrogenase deficiency - causes build up of branched chain amino acids.

40
Q

Maple Syrup Urine Disease (MSUD): Phenotype

A

Neurological disorders, mortality, maple-syrup odor in urine. Dietary control only slightly effective.

41
Q

Homocystenuria: Key Defect

A

Cystathionine B-synthase deficiency: cannot synthesize cystathionine.

42
Q

Homocystenuria: Phenotype

A

Osteoporosis, MR, cardiovascular disease.

43
Q

Urea cycle disorders: Key Defect

A

Deficiency in any of the urea cycle enzymes. Arginosuccinate synthase deficiency is common, can treat with high doses of arginine to drive ammonia into citrulline.

44
Q

Urea cycle disorders: Phenotype

A

Hyperammonemia, encephalopathy, respiratory alkalosis. Limited success in treatment. Will present in normal, full term infants after 24-48 hours, can lead quickly to death.

45
Q

Phenylketoneuria (PKU): Key Defect

A

Defects in phenylalanine hydroxylase

46
Q

Phenylketoneuria (PKU): Phenotype

A

Build up of phenylalanine, neuro problems, decrease tyrosine -> hypopigmentation, development defects.

47
Q

Lesch-Nyhan Disease: Key Defect

A

Deficient HGPRT - important for purine salvage

48
Q

Lesch-Nyhan Disease: Phenotype

A

MR, overproductive gout, self injury.

49
Q

Gout: Key Defect

A

3 types: Impaired kidney excretion, uric acid overproduction due to unregulated PRPP synthase, Lesch-Nyhan.

50
Q

Gout: Phenotype

A

Uric acid build up in joints, pain and swelling. Will see uric acid crystals in joint fluid.

51
Q

Adenosine Deaminase Deficiency (ADA): Key Defect

A

ADA enzyme deficiency - causes increased adenosine and dATP levels, inhibits synthesis of all DNA from RNA precursors.

52
Q

Adenosine Deaminase Deficiency (ADA): Phenotype

A

SCID - Severe combined immune deficiency. No B or T cells, frequent infections.

53
Q

Alpha-1 anti-trypsin deficiency: Key Defect

A

Deficiency in specific serpin.

54
Q

Alpha-1 anti-trypsin deficiency: Phenotype

A

None listed in notes

55
Q

Acute Intermittent Porphyria: Key Defect

A

Problems in heme synthesis due to blockage of the early steps of heme biosynthesis pathway. Deficiency of hydroxymethylbilane synthase (rate limiting).

56
Q

Acute Intermittent Porphyria: Phenotype

A

Heme deficiency: may present as anemia, abdominal pain, behavioral changes due to ALA accumulation, which approximates/antagonizes GABA.

57
Q

Galactosemia: Key Defect

A

Loss of Galactose-1-P uridyl transferase.

58
Q

Galactosemia: Phenotype

A

Galactose may build up in tissues, including brain. Life threatening in infants if not diagnosed.

59
Q

Hereditary fructose intolerance: Key Defect

A

Loss of liver specific aldolase.

60
Q

Hereditary fructose intolerance: Phenotype

A

Accumulation of Fructose-1-Pi causes liver damage. Inhibits glycogen phorphorylase –> hypoglycemia.

61
Q

Hypertrophic cardio myopathies: Key Defect

A

Minor protein mutation causes contraction to occur suboptimally.

62
Q

Hypertrophic cardio myopathies: Phenotype

A

Wall of heart thickens over time, asymptomatic until major heart occurrence.

63
Q

Smith-Lemli-Opitz Syndrome: Key Defect

A

7-dehydrocholesterol-7-reductase deficiency

64
Q

Smith-Lemli-Opitz Syndrome: Phenotype

A

Physical malformations, intellectual disability, embryonic development.

65
Q

Cystic Fibrosis: Key Defect

A

F508CFTR - mutation in chloride channel.

66
Q

Cystic Fibrosis: Phenotype

A

Destruction of chloride channel leads to symptoms.

67
Q

Porphyria Cutanea Tarda (PCT): Key Defect

A

Uroporphyrinogen decarboxylase mutated. Chronic porphyria. Part of heme synthesis pathway.

68
Q

Porphyria Cutanea Tarda (PCT): Phenotype

A

LIver damage, photosensitive skin rashes. No neuro issues since ALA levels are normal (ALA antagonizes GABA). Tx: regular phlebotomy.

69
Q

Lead Poisoning: Key Defect

A

Lead inhibits ALA dehydrase and ferrochelase.

70
Q

Lead Poisoning: Phenotype

A

Same symptoms as AIP (due to inhibition of live ALA dehydrase) plus anemia (inhibition of bone marrow heme synthesis).

71
Q

Vitamin B12 Def:

A

(Colabalamin). dietary problems or pernicious anemia (cannot absorb due to lack of intrinsic factor). cofactor in C-1 metabolism, causes metaloblastic anemia, degeneration of spinal cord, dementia. Folate supp may help anemia but won’t fix spinal cord degeneration.

72
Q

Vitamin C Def

A

Scurvy. loss of connective tissue. Collagen deficiency. bleeding gums, hemorrhages around hair follicles

73
Q

Vit K Deficiency

A

needed to carboxylate glutamate as part of clotting cascade (Klotting). blocked by coumadin. deficiency leads to hemorrhage with long PTT. Intestinal bacteria can provide.

74
Q

Vit B1 Def

A

(thiamine). coenzyme for carbohydrate metabolism. deficiency causes Korsakoff’s sx in alcohol abusers. Engine oil and mammilary bodies thing. Always give thiamine with glucose to alcoholics. also Beriberi: peripheral neuropathy and dilated cardiomyopathy

75
Q

Vitamin B3 def

A

Niacin. 4 D’s: dermatitis, diarrhea, dementia, death. Pellagra. Precursor of NAD and NADP coenzymes.

76
Q

Vit B7 def

A

Biotin. Deficiency caused by eating lots of raw eggs.

77
Q

Vitamin B9 def

A

Folate. needed for 1C metabolism, including purines and thymidine (ie, DNA). deficiency causes metaloblastic anemia and fetal neural defects.

78
Q

Vitamin D def

A

Ricketts. UV can help synthesize. Vit D helps with absorption of calcium.

79
Q

Marasmus

A

Overall calorie deficiency.

80
Q

kwashiorkor

A

Protein deficiency. sufficiency calorie intake. yields big stomach. may occur just after weaning. Edema, rash, fatty liver.

81
Q

Xeroderma pigmentosa

A

inability to repair DNA damage due to UV

x M1 Biochem Term 2 Quiz 4 (4 decks)

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