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SFM > Quiz 1 Disease > Flashcards

Quiz 1 Disease Flashcards

Clinical Relevances

1
Q

Tarui Disease

A

Deficiency in PFK-1

  • exercise-induced muscle cramps and weakness
  • hemolytic anemia
  • high bilirubin
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2
Q

Hemolytic Anemia

A 
Deficiency in PK
-ineffective glycolysis
-RBC's most effected because ONLY use glucose b/c they have no mitochondria
Clinical Markers:
-elevated LDH (lactate dehydrogenase)
-unconjugated bilirubin
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3
Q

Diabetes Mellitus (Type I and Type II)

A

Type I: “juvenile”
-severe insulin deficiency b/c loss of b-pancreatic cells
Type II: “obesity”
- insulin resistance that progresses into loss of b-cell function

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4
Q

Fanconi-Bickel Syndrom

A

GLUT2 mutation

  • unable to uptake glucose, fructose, galactose
  • postprandial hyperglycemia, fasting hypoglycemia
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5
Q

F1,6-BP Deficiency

A

Similar to Tarui Disease in glycolysis

  • hypoglycemia
  • lactic acidosis, ketosis, apnea
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6
Q

Von Gierke Disease

A

GSD1: Deficiency in G6Pase

  • cannot convert G6P into free glucose
  • fasting hypoglycemia, lactic acidosis
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7
Q

Sorbitol Accumulation

A

Glucose –> Sorbitol via Aldose Reductase
Sorbitol –> Fructose via Sorbitol Dehydrogenase
** Sorbitol Dehydrogenase deficiency = buildup of Sorbitol –> kidneys, lens, retina, Schwann cells - water influx + swelling - retinopathy, cataracts and peripheral neuropathy

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8
Q

Non-Classical Galactosemia

A

Deficiency in Galactokinase

  • galactose cannot be converted into galactose 1-P therefore you have a buildup of galactose and galactitol
  • galactose –> galactitol via Aldose Reductase
  • not as severe, cataracts b/c galactitol buildup
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9
Q

Classical Galactosemia

A

Deficiency in GALT

  • galactose 1-P cannot be converted to G1P (rate-limiting step)
  • more severe, liver failure, failure to thrive, sepsis
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10
Q

Lactose Intolerance

A

Deficiency in Lactase enzyme

-breaks down lactose –> glucose + galactose

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11
Q

High Fructose Corn Syrup

A

Fructose bypasses the rate-limiting step in glycolysis

-steathosis (fatty liver)

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12
Q

G6PD Deficiency

A

G6P Dehydrogenase converts G6P –> intermediate in PPP = rate-limiting step of Phase 1 = oxidative phase

  • common in African Americans
  • hemolytic anemia b/c low NADPH (NADPH regenerates glutathione = important antioxidant)
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13
Q

GSD 0

A

Glycogen Synthase (GS) deficiency

  • cannot synthesize glycogen from glucose
  • rely on glucose from diet
  • fasting hypoglycemia, muscle cramps due to lack of glycogen in muscles
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14
Q

Andersen Disease

A

GSD IV: Branching Enzyme Deficiency (glucose 4:6 transferase)

  • cannot branch glycogen –> a lot of linear branches of glycogen
  • hepatosplenomegaly + cirrhosis
  • death by 5 –> SEVERE
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15
Q

McArdle Disease

A

GSD V: Glycogen Phosphorylase (GP) Deficiency in Muscle

  • cannot break down glycogen into G1P
  • GP requires B6 - PLP*
  • muscle cramps, myoglobinuria
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16
Q

Hers Disease

A

GSD VI: Glycogen Phosphorylase (GP) Deficiency in Liver

  • cannot break down glycogen into G1P
  • GP requires B6 - PLP*
  • hepatomegaly, low blood glucose levels
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17
Q

Pompe Disease

A

GSD II: Acid Maltase aka Acid a-glucosidase Deficiency

  • impairs lysosomal glycogenolysis –> accumulation of glycogen in lysosomes
  • heart problems
18
Q

Cori Disease

A

GSD III: Debranching Enzyme Deficiency (a-1,6-glucosidase)

  • cannot break glycogen a-1,6 branches –> a lot of short branched glycogen
  • light hypoglycemia and hepatomegaly
19
Q

Niemann-Pick Disease

A

Deficiency in A-SMase (Acid Sphingomyelinase)

  • A-SMase (lysosomal enzyme) is responsible for breaking down sphingomyelin into ceramide + phosphorylcholine
  • accumulation of SM in lysosomes of liver, spleen, CNS and bone marrow
  • hallmark = “CHERRY RED SPOT”
20
Q

Erythroblastosis Fetalis

A

Disease in which there is incompatibility between the blood of mother and fetus
-Rh antigen

21
Q

Spur Cell Anemia

A

Type of hemolytic anemia

  • Elevated levels of cholesterol in the membranes of RBC’s which causes increased rigidity/decreased fluidity in the RBC’s
  • causes acanthocytes = spikes in RBC’s –> susceptible to bursting when circulating in capillaries
22
Q

Cystinuria

A

Defect in transporter responsible for uptake of:

  • Cystine +Arginine, Lysine, Ornithine
  • Cystine crystals in kidneys = kidney stones
  • renal cholic (abdominal pain due to crystals)
  • crystals are clear when inside therefore hard to detect until they are passed in urine = painful
23
Q

Hartnup Disease

A

Tryptophan uptake deficiency + Non-polar/Neutral Amino Acids - transporter found in liver and kidneys

  • Tryptophan = important for serotonin, melatonin, and niacin
  • photosensitivity, cerebellar ataxia, photo dermatitis
  • pellagra (3D’s)
24
Q

Cardiotonic Drugs

A

i. e. oubain + digoxin (cardiac glycosides)
- induce contraction in the heart
- inhibit Na+/K+-ATPase in cardiac myocytes which in turn inhibits NCX (Na+-Ca2+ Exchanger) because they are coupled, therefore Ca2+ builds up inside the cell –> increases contractile force of cardiac muscle cells
- used to treat CHF, AFib, etc.

25
Q

Cystic Fibrosis

A

Mutation in CFTR gene (Cystic Fibrosis Transmbn Conductance Regulator gene)

  • CFTR = a transporter for Cl-
  • deficiency in this transporter causes Cl- to remain inside the epithelial cells of the airways which is compensated by Na+ coming in to form NaCl (salt), which in turns causes H2O to flood in from the mucosal cells –> thickening of mucosal cells –> susceptible to bacterial infections
26
Q

MCAD Deficiency

A

Medium Chain Acyl-CoA Dehydrogenase Deficiency

  • Impairs breakdown of Medium Chain Fatty Acid
  • accumulation in liver - interferes with urea cycle, elevated levels of ammonia
  • patients depend on glucose from diet since unable to break down fatty acids
  • hypoglycemia
  • gluconeogenesis = impaired because low activity of PC (b/c low ATP and Acetyl-CoA levels)
  • Treatment = avoid b-oxidation
27
Q

Homocystinura

A
  • Vitamin deficiencies in B6, B12 or cystathionine b-synthase
  • caused by increased Methionine –> Homocysteine –> Homocystine
  • osteoporisis, mental retardation, eye lens dislocation
28
Q

Maple Syrup Urine Disease (MSUD)

A

Deficiency in BCKD (branched-Chain a-keto acid Dehydrogenase Complex)

  • inability to break down BCAA’s (branched-chain amino acids - i.e. valine, isoleucine, leucine)
  • sweet smelling urine, toxic effects on brain –> mental retardation
29
Q

Phenylketonuria (PKU)

A

Deficiency in PAH (PhenylAlanine Hydroxylase)

  • most common IEM = inborn error of metabolism*
  • Phenylalaine cannot be converted to Tyrosine, instead converted to phenylpyruvate –> phenyllactate + phenylacetate
  • musty odor smelled urine (from phenyllactate)
  • blocks N.T.s in brain because made from Tyrosine
  • secondary PKU –> BH4 deficiency
30
Q

Albinism

A

Deficiency in Tyrosinase

-inability to for tyrosine to convert to melanin (pigmentation)

31
Q

Ammonia Toxicity

A

Excessive ammonia due to a defect in the urea cycle

  • NH3 has toxic effects (in comparison to NH4+) because it can easily permeate membranes (unlike NH4+ because it’s charged)
  • causes pH imbalance, swelling in brain –> edema
  • mitochondrial dysfunction
32
Q

Urea Cycle + High Protein Diet

A

A high protein diet increases the production of urea, whereas a high carb diet will decrease urea production

33
Q

CK-MB

A

Cardioselective isoform of Creatine Kinase

  • Creatine is made from 3 A.A.’s
    1. Arginine
    2. Glycine
    3. Methionine
34
Q

Methotrexate

A 
Targets DHFR (dihydrofolate reductase) which converts folate --> THF
-Blocks PRA --> IMP
35
Q

Orotic Acidura

A

UMP Synthetase deficiency

  • inability for Orotate –> UMP (using PRPP)
  • buildup of orotate
36
Q

“Sulfa” Drugs

A

Bacterial agents that inhibit the bacterial enzyme that incorporates PABA into folate

  • selective to bacteria
  • humans acquire folate from diet
37
Q

SCID (Severe Combined Immunodeficiency)

A

Deficiency in Adenosine Deaminase

  • inability to convert Adenosine –> Inosine
  • B/T-cells compromised
  • think “Bubble Boy”
38
Q

Gout

A

Overproduction of Xanthine Oxidase

  • inability to convert Xanthine –> Urate (uric acid)
  • buildup of uric acid –> gout
  • high purine diets –> cause increase uric acid
  • Treament = Allopurinol –> inhibits xanthine oxidase
  • Treament = increased purines hypoxanthine and guanine
39
Q

Lesch-Nyhan Syndrome (Kelley-Seegmiller Syndrome)

A

Deficiency in HGPRT (Hypoxanthine-guanine phosphoribosyltransferase)

  • inability to convert Guanine/Hypoxanthine –> GMP or IMP
  • self-mutilation, severe effects like cerebral palsy
40
Q

Acyclovir

A

Undergoes phosphorylation by a viral thymidine kinase –> monophosphate acyclovir-GMP and then incorporates it into the viral DNA –> messes up viral DNA replication

SFM (2 decks)

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