Diseases Flashcards

1
Q

Vitamin B1 deficiency

A

Overall: Issues with transketolase

Can cause issues in RBCs –> Get anemia + hemolytic disease in newborns

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2
Q

Glucose-6-Phosphate dehydrogenase deficiency

A

Overall: Decrease in NADPH in RBCs –> lead to hemolytic anemia

Notes:
1. Most common enzyme deficiency
2. More common in African Americans
3. Increases Malaria resistance
4. Inhibits the oxidative path = no Non-oxidative path
5. X- Linked recessive

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3
Q

Hypervitomanosis

A

Increase in Vitamins

Example - Increase Vitamin D = Increase Calcium = Get problems in heart + Muscles

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4
Q

Van Gierke Disease

A

Overall: Deficiency in Glucose-6-Phosphatase

Notes:
1. Increase in Uric Acid –> Leads to gout
2. Serial Hyperglycemia –> Can’t control blood glucose levels
3. Enlarged Liver + Enlarged Kidney

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5
Q

Pompei’s disease

A

Overall: Deficiency in Alpha 1,4 and alpha 1,6 Glucosiase

Notes:
1. Lysosomal Storage disorder
2. Hypotrophic cardiomyopathy –> Heart mudcle is bigger = pump less blood
3. Exercise intolerance
4. Death by 2/3

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6
Q

MacArdles Disease

A

Overall: Deficiency in Skeletal muscle glycogen Phosphatase

Notes:
1. Increase glycogen in muscle but can’t break it down –> get painful muscle cramps
2. Myoglema – no strenuous excise
3. Electrolyte abnormalities

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7
Q

Fredirich’s Ataxia

A

Overall: Frataxin Deficiency

Effects:
Nervous system + Skeletal system + Heart

NOTE: Frataxin small mitocondrial protein that synthesizes Fe-S Clusters

Notes:
1. Autosmal
2. Hypotrophic cardiomyopathy
3. Bottom of feat are hard = feet roll
4. Antiseptic Disorder – next generation gets it young
5. Caused by GAA repeats in teh Frataxin Gene

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8
Q

Succinate Dehydrogenase Deficiency

A

Overall: Increase succinate – facilitates in formation of cancer

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9
Q

Emphysema

A

Overall: COPD – Bronchitis

Cause by: ROS

Note:
1. Can lead to small cell carcinoma –> die in 6 months

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10
Q

Duchene Muscular Dystrophy

A

Overall: Caused by ROS –> Have skeletal muscle turns to fat

Notes:
1. Symptom is cow maneuver to get up – poor muscle tone
2. Kids die young
3. X-links recessive
4. Lysosomal Storage Disorder

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11
Q

LHON

A

Lern Haber Optic nueropothy – Type of blindness due to death in optic nueron

OverallL Type of blindness due to mutation in complex I (IN ETC)

Note:
1. Effects Nerve 2 (Optic nerve)
2. Impairs NADH Utilization + Blocks transfer to Q
3. In mice model – Decreases ATP and Increases ROS

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12
Q

Triosphosphate Isomerase Deficiency

A

Only Glycolytic enzyme deficiency that is lethal

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13
Q

Excess Frutose

A

Leads to:
1. Fatty Liver
2. Type 2 Diabetes
3. Obesity
4. Insulin insensitivity

Liver Fructose Metabolism bypasses PFK1 (main regulation site)

Excess Pyruvate –> AcoA –> Fatty Acids

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14
Q

Lactose Intolerance

A

“Hypolactasia”
Cause by: Lactase deficiency – adults lack enzyme that degrade lactose

Notes:
1. Northern Europeans have mutation that stops decrease in Lactase after weaning
2. In lactose intolerant –> gut bacteria ferment lactose to lactic acid –> get methane + H2 – get gas + disrupt osmotic balance in intestine

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15
Q

Succinly CoA deficincey

A

Overal: Deficincey in heme groups –> deficient hemoglobin + deficient RBCs –> Anemia

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16
Q

Group of enzymes that can lead to cancer

A

Defects in Succinate Dehydirgenase + Fumarase + Pyruvate dehydrogenase kindase + Isocitrate dehydrogenase contribute to cancer griwth

Succinate dehydrigenase + Fumarase + Pyruvate dehydrigenase kinase mutations = activates HIF-1 –> enhanced aerobic glycolysis

Muttaion in isocitrate dehydrigenase –> synthesis of 2-hydroxyglutarate – modifies DNA methylation patters that alter gene expression and promote rapid growth

17
Q

Acytla CoA Acytel transferase

A

Synthesizes ketone bodies to serve as fules for tissues – in some cancers the enzyme is phosphorylated – changes activity to be protein acytly trasnferase THEN it can acytelyae Pyruvate dehydrigenase and pyruvate dehydrigenase phosphatase – inhibits enzymes which facilitates switch to aerobic glycolysis

18
Q

Beri Beri

A

Overall: Due to Thiamine deficiencey

Thiamine deficiencey = leads to decrease in PDC + A-KG dehydrogenase + Transketolase activity

***Thiamine = processor of TPP – enzymes need TPP to function

Sympotoms: Nuerologic + cardiovascular probelms

***Thiamine = found in brown rice not white rice

Dry beri beri – lose skelatoal muscles
Wet Beri Beri – dialated cardiomyopothy – less blood circulation due to bigger heart chambers

19
Q

Mercury + Arsenic

A

Overall: Inhibit Pyruvate dehydrogenase complex – binds to two sulfars in dihydrolipoamide

2,3 Dimercamptoproanol = counter effects of arsenite poinsoning by making comlex that can be extreted

***early hatters = used mercyry = inhibited PDC by binding to lipoamide arm = led to stange behavior

20
Q

Diabetic neuropathy

A

Overall: Numbness or tingling or pain in limbs and digits common in type 1 and type 2 diabetes

Sympotoms = Caused by overproduction of lactic acid in the dorsal root ganglion (part of nervous system repsonsible for pain)

 - Increase in lactic acid may be due to hyperglycermia (high glucose) 
  - have increased pryuvate dehydrogenase kinase activity in cells in dorsal root ganglion = inhibits PDC  -- pyruvate then goes to lactate = increase lactate = acid
21
Q

Tuberculosis

A

Overall: Bacteria that is trasmitted to people by coughing or sneezing

Rifamipicin = common treament –> inhibitors tranlation BUT new strains = need new tratemnts

Bacteria= use glyoxylate cycle (especially in latent state in lungs)

NEW DRUG – suicude inhibitor for layase has been synthesized – when inhibitor reacts with lyase suciante is release but the cystein lyase remians modified
***cysteine = conserved = bacteria should not be able to develope resistence

22
Q

Bart Syndrome

A

Overall: reduced taffafzin

Note: Taffafzin is responsible for cardiolinpidin synthesis (cardiolipidin = found in mitocdinrial memebrane and is important for the structure of the respirasome which is used in ATP synthesis)

Sympotoms: Dialated heart chambers + excersize intolerance + impaired growth

Individuals = have malformed mitocondria with distorited inner membranes and poorley functioning respirasomes

23
Q

Classic Galactosemia

A

Overall: Galactose-1-P Uridly trasnferase activity is deficient

Symtoms:
1. Failure to Thrive
2. Jaundice + Liver englargment
3. Cirrous
4. Cateract formation

***Treatment = to remove galactose and lactose from diet

24
Q

Warburg Effect

A

Overall: Cancer cells use aerobic glycolysis for ATP generation (make Lactate even in the presence of oxygen)

Why:
1. Acidic envirment = facilitates in tumor invasion
2. Glu-6-P gives substate for PPP to make NADPh which is needed by rapidly dividing cells
3. Tumors tend to have little blood vessels = little oxygen supply = aerobic makes them less reliant on O2

***HIF-1 (hypoxia induced trasncription factor) - faciliatets in aerobic glycolysis –> allows the tumor to survive until blood vessels can grow

25
Triosphosphate isomerase deficincey
Overall: Multisystem disoder that presents in early childhood Symptoms: 1. Congetical RBCS defects 2. Nuerological defcets 3. Death in early childhood ***Accumilation of DHAP (esocially in RBCs) ***CNS + RBCs = affected because they rely on glucose for energy ***Can also get mythl glyoxylate --> can glycosylate oroteins and for AGEP -- inhibits protein function
26
Pyruvate carboxylase deficncey
Symptoms: 1. Hypoglycermia -- because can't make glucose 2. Lactic Acidosis -- because normally liver takes lactic acid for gluconogenisis but it can't = LA builds up in blood
27
Hurler
aka "mucopolysacaridoses" Overall: Results from inhibition to degrade proteoglycans -- protoglycans = not degraded = accumalte in the blood Symtoms: 1. Skelatal defromations 2. Reduced life expectancy ***Have thick ear lobe + thick skin + irregular teeth
28
Adenocarcinoma
Cancer of glandular cells of epithelial origin
29
Pyruvate dehydrogenase phosphatase deficiency
Prydavte dehydrogenase will always be phosphorylated = will also be inactivated AcoA --> lactate = increase lactate in blood (get lactic acidosis) Affects CNS -- many systems malfunctions because of the acidic envirnment
30
Maple Syrup Disease
Overall: Defect in branch chain AA A-KA dehydrogenase Issue in Val + Leu + Ile ***Diaper = smells like brunt surgar Symptons: 1. Frequent metabolic issue 2. Affect CNS 3. Pateint dies Give AA to help Autosomal Recessive
31
Diabetes AA
Cysteine
32
Thyroid problems AA
Tyrosine
33
Parkinsons AA
Tyrosine
34
Osteogensis imperfecta
Overall: Issue in collegen synthesis --> No glycine every 3 Amino Acids -- have defects in collegen syntehsis Blue scelera = found if have osteogensis imperfecta