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Biochemistry SGU > Diseases > Flashcards

Diseases Flashcards

1
Q

Define Respiratory acidosis

A

serum pH is low and the primary disturbance is increased pCO2 because there is an issue with the lung’s ability to remove CO2.

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2
Q

Define Respiratory alkalosis

A

serum pH is high and the primary disturbance is decreased pCO2 because the lung is removing CO2 quickly (hyperventilation)

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3
Q

Define Metabolic acidosis

A

serum pH is low and you see a decreased [HCO3-] and a decreased PCO2.

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4
Q

Define Metabolic alkalosis

A

serum pH is high and you see an increase in [HCO3-] and PCO2

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5
Q

What happens in Diabetic ketoacidosis?

A

increased ketone bodies (an organic non volatile acids) will lower serum pH. If the kidney is functional, the kidneys will secrete more H+ into urine and secrete more HCO3- into circulation

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6
Q

Diarrhea will result in what type of pH disorder?

A

Metabolic acidosis

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7
Q

Pyloric stenosis will result in what type of pH disorder?

A

Metabolic alkalosis

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8
Q

Name the different types of respiratory acidosis

A

Airway obstructions, opioid drugs, disease in the phrenic nerve, Guillian Barre syndrome, Lung diseases: COPD, RDS, Fibrosis of lungs, muscle diseases affecting the chest wall.

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9
Q

How can you get respiratory alkalosis?

A

Going to high altitudes.

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10
Q 
The following is an example of which pH imbalance?
(Normal levels are in parenthesis)
pH= 7.25 (7.4)
PCO2 = 60 mmHg (38-42)
HCO3-=26 mmol/L (22-25)
A

Respiratory Acidosis

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11
Q

Look at the following blood gas levels. What pH imbalance disorder is it?
pH=7.47 (7.4)
PCO2 = 20 mmHg (38-42)
HCO3- = 19 mmol/L (22-25)

A

Compensated Respiratory Alkalosis

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12
Q

Dried mucus can block the pancreatic duct and cause pancreatitis in these patients. What other complications could they have?

A

Cystic fibrosis

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13
Q

Name 3 diseases that may result in steatorrhea (fatty stool).

A
  1. Pancreatic disease
  2. Biliary tract obstruction
  3. Intestinal mucosal disease
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14
Q

Which type of glycogen storage is Pompe disease?

A

Type II

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15
Q

What is the name of glycogen storage disease Type III

A

Cori

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16
Q

Hers disease is which type of glycogen storage disease?

A

Type VI

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17
Q

What is the deficient enzyme in Von Gierke?

A

Glucose 6-phosphatase or glucose 6-phosphate translocase

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18
Q

Which type of glycogen storage is Tarui disease?

A

Type VII

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19
Q

A deficient lysosomal glucosidase is associated with which disease?

A

Pompe disease Type II

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20
Q

McArdle syndrome is a defect in which enzyme?

A

Muscle glycogen phosphorylase

21
Q

Type IV glycogen storage disease is named?

A

Andersen disease

22
Q

Von Gierke disease is which type of glycogen storage disease?

A

Type I

23
Q

Which enzyme is deficient in Cori disease?

A

glycogen debranching enzyme

24
Q

Normal glycogen structure but high glycogen amount in the liver and the kidney is associated with which glycogen storage disease?

A

Type I

Von Gierke

25
Q

Normal glycogen structure but high glycogen amount in only the muscle cells is associated with which glycogen storage disease?

A

McArdle

Type V

26
Q

A deficiency with glycolysis PFK-1 in muscle and RBC is associated with which disease?

A

Tarui disease

Type VII

27
Q

Normal amounts of cytosolic glycogen and structure but very high amounts of glycogen in lysosomes is associated with which disease?

A

Pompe disease
Type II
defective lysosomal glucosidase

28
Q

High levels of normal glycogen in only the liver is associated with which disease?

A

Hers disease

Type VI

29
Q

A defective glycogen branching enzyme is associated with which disease?

A

Andersen disease

Type IV

30
Q

Normal amount of glycogen everywhere but the structure is abnormal. There are short branches, limit dextrinosis. Which disease is it associated with?

A

Cori Disease

Type III

31
Q

Scarring of the liver due to unbranched glucose chains in glycogen is associated with which disease?

A

Andersen

Type IV

32
Q

Hers disease is associated with which defective enzyme?

A

Liver glycogen phosphorylase

33
Q

Which disease is associated with these symptoms?
Liver: severe hypoglycemia
Hepatomegaly
Kidney disease
Early death if untreated, treatable by uncooked
corn starch meal at night or nocturnal gastric
glucose infusion

A

Von Gierke

Type I

34
Q 
Which disease is associated with these symptoms?
Liver: infantile cirrhosis
Hepatomegaly due to cirrhosis
Muscle: infantile hypotonia
Early death
A

Andersen

Type IV

35
Q

Which disease is associated with these symptoms?
Heart, liver, muscle: early death by heart failure
Massive cardiomegaly,
Treatable with enzyme infusion
Normal blood glucose levels
Infantile and late-onset forms

A

Pompe

Type II

36
Q

Which disease is associated with these symptoms?
Muscle: lack of ATP leads to muscle cramping,
no rise in lactate
RBC: lack of ATP leads to hemolysis
Normal blood glucose levels

A

Tarui

Type VII

37
Q

Which disease is associated with these symptoms?
Muscle: weakness and cramping,
no increase of lactate in blood after exercise,
lack of ATP
Normal blood glucose levels

A

McArdle

Type V

38
Q 
Which disease is associated with these symptoms?
Liver: mild hypoglycemia
Muscle, heart: weakness, hypotonia,
cardiomyopathy
muscular dystrophy
hepatomegaly
A

Cori

Type III

39
Q

Which disease is associated with these symptoms?
Liver: mild hypoglycemia
Hepatomegaly, growth retardation

A

Hers

Type VI

40
Q

Defective fructokinase results in which disease?

A

Essential fructosuria

41
Q

Which disease is associated with these symptoms?
• Hypoglycemia after consuming fructose or sucrose
• Hepatocellular failure
• jaundice
• positive clinitest

A

Hereditary Fructose Intolerance

Aldolase B defect

42
Q

Which enzyme is deficient in galactose 1-phosphate uridyl transferase?

A

Classical Galactosemia

43
Q

Does Nonclassical galactosemia result in liver disease?

A

No, there is no buildup of toxic galactose 1 phosphate

44
Q

ALS is a defect in which enzyme?

A

Superoxide dismutase

45
Q

Chronic granulomatous disease is a defect in which enzyme?

A

NADPH oxidase deficiency

46
Q

Myeloperoxidase deficiency results the inability of immune cells to fight off what type of infection?

A

Fungal infections.

Myeloperoxidase makes hypochlorous acid (HOCL) which is needed for destruction of fungi

47
Q

Leber Hereditary Optic Neuropathy

A

defect in NADH dehydrogenase (complex I). Rapid optic nerve death, leading to blindness in young adult life

48
Q

Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF)

A

using succinic dehydrogenase stain will show ragged red fibers. Mitochondria are disorganized

49
Q

MELAS

A

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

Biochemistry SGU (2 decks)

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