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Diseases > Quiz 1 Master List > Flashcards

Quiz 1 Master List Flashcards

1
Q

Neimann-Pick Disease

A

Cause: deficiency of a-sphingolyelinase

Symptoms: hepatosplenomegaly, neuro damage, “cherry red spot” in the eye

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2
Q

Erythroblastosis Fetalis

A

Cause: Incompatibility between blood for mother and fetus with D antigen (Rh factor)

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3
Q

Spur Cell Anemia

A

Cause: elevated levels of cholesterol bound to RBC membrane

Symptoms: RBCs break their membranes when passing through capillaries of spleen

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4
Q

Cystinuria

A

Cause: defect in transporter for COLA AAs (cystine, ornithine, lysine, arginine)

Symptoms: drystone crystals or stones in the kidneys, presents with renal cholic

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5
Q

Hartnup Disease

A

Cause: defect in transporter for non-polar and/or neutral AAs

Symptoms: cerebellum ataxia, photodermatitis, photosensitivity

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6
Q

Cystic Fibrosis

A

Cause: mutation in CFTR gene

Symptoms: buildup of Cl- inside airway epithelial cells resulting in thicker mucous that leaves pt susceptible to bacterial infections

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7
Q

2-oxoglutaric aciduria

A

Cause: deficiency in a-ketoglutarate dehydrogenase

Symptoms: metabolic acidosis, severe microcephaly, mental retardation

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8
Q

Fumarase Deficiency

A

Cause: fumarase deficiency characterized by severe neurological impairment; fatal outcome within first 2 years of life

Symptoms: encephalomyopathy, dystonia, increase in urinary frequency of fumarate, succinate, a-ketoglutarate, and citrate

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9
Q

Pyruvate Dehydrogenase Deficiency

A

Cause: pyruvate dehydrogenase deficiency

Symptoms: high serum pyruvate and lactate, though the ratio of pyruvate to lactate is normal

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10
Q

Rat Poison (fluoroacetate)

A

Cause: reacts in TCA to make fluoroacetate that acts as an analogue of citrate and is a competitive inhibitor of aconitase

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11
Q

What is the name of Complex I and what is it inhibited by?

A

NADH dehydrogenase

Amytal, rotenone, myxothiazol, piericidin A (think RAMP)

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12
Q

What is the name of Complex II and what is it inhibited by?

A

Succinate dehydrogenase

Malonate

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13
Q

What is the name of Complex III and what is it inhibited by?

A

Cytochrome C reductase

Antimycin

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14
Q

What is the name of Complex IV and what is it inhibited by?

A

Cytochrome C Oxidase

CO, Cyanide, SH2

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15
Q

What is the name of Complex V and what is it inhibited by?

A

ATP Synthase

Oligomycin

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16
Q

Tauri Disease

A

Cause: deficiency in PFK-1

Symptoms: exercise-induced muscle weakness and cramps, hemolytic anemia, high bilirubin and jaundice

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17
Q

Fanconi-Bickel Syndrome

A

Cause: mutation in GLUT2 transporter, so unable to uptake glucose, fructose, and galactose

Symptoms: FTT, hepatomegaly, tubular nephropathy, and bloating, resistant rickets

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18
Q

F-1,6BPase Deficiency

A

Cause: mutations that make this enzyme defective

Symptoms: presents in infancy or early childhood as hypoglycemia, lactic acidosis, ketosis, apnea

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19
Q

Lactose Intolerance

A

Cause: deficiency in lactase

Symptoms: disturbance in GI function

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20
Q

Galactosemia Type I

A

Cause: deficiency in GALT

Symptoms: accumulation of galacitol resulting in FTT, liver failure, sepsis, and bleeding

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21
Q

Galactosemia Type II

A

Cause: deficiency in galactokinase

Symptoms: accumulation of galactose and galacitol in blood and urine

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22
Q

Type II Diabetes

A

Cause: insulin resistance due to mutations in insulin receptor and/or downstream signaling proteins

BG Criteria….
Normal: 70-100 fasting, <140 fed
Prediabetic/At Risk: 100-125 fasting, >140 fed
Diabetes Mellitus: >126 fasting, 199+ fed

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23
Q

GSD 0

A

Cause: deficiency in glycogen synthase

Symptoms: vulnerable to hypoglycemia when fasting, have muscle cramps, need to eat frequently

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24
Q

GSD 1

A

Von Gierke Disease

Cause: deficiency in G6Pase

Symptoms: fasting hypoglycemia, lactic acidosis, hepatomegaly due to buildup of glycogen, hyperlipidemia

25
Q

GSD II

A

Pompe Disease

Cause: deficiency in acid maltase/acid a-glucosidase

Symptoms: myopathy including heart and skeletal muscle; mortality due to heart failure in infancy

26
Q

GSD III

A

Cori Disease

Cause: deficiency in a-1,6 glucosidase; glycogen with large number of short branches

Symptoms: light hypoglycemia and hepatomegaly

27
Q

GSD IV

A

Andersen Disease

Cause: deficiency in glucosyl (4:6) transferase; long chain glycogen with fewer branches

Symptoms: hepatosplenomegaly and cirrhosis

28
Q

GSD V

A

McArdle Disease

Cause: deficiency in muscle glycogen phosphorylase (RLS of glycogen breakdown); unable to supply muscles with enough glucose

Symptoms: weakness, fatigue, muscle cramping, and muscle breakdown (myoglobinuria)

29
Q

GSD VI

A

Hers Disease

Cause: deficiency in liver glycogen phosphorylase; prevents glycogen breakdown in the liver, hence it accumulates in the liver

Symptoms: hepatomegaly and low BG levels

30
Q

MCAD (primary carnitine deficiency)

A

Issue with the MCAD (medium chain acyl coenzyme A dehydrogenase) in the mitochondria

cannot breakdown the medium chain fatty acids which leads to low intracellular carnitine levels (secondary carnitine deficiency)

Clinical: hypoglycemia/sudden death

31
Q

Methotrexate

A
  • Targets dihydrofolate reductase (DHFR)
  • Prevents oxidation of NADPH
  • Antineoplatic agent used to treat cancer
  • Inhibitions disrupts DNA replication in cancer cells
32
Q

“Sulfa” drugs

A
  • Antibacterial agent
  • Inhibits the pathway that takes PABA to folate in bacterial cells, essentially starving the bacterium
  • Disrupts DNA replication in bacteria
33
Q

Oxidation levels of purines

A

Adenine = 0 O2
Guanine and Hypoxanthine = 1 O2
Xanthine = 2 O2
Uric acid = 3 O2

  • Uric acid is the end point of purine catabolism, which is most oxidized (**Catabolic processes add oxygen to make more polar)
34
Q

Acyclovir

A
  • Used to help heal sores related to chicken pox, shingles, and HPV
  • Affects the enzyme thymidine kinase
  • Phosphorylated by viral thymidine kinase at higher rate than cellular thymidine kinase
  • Converts to acyclo-dGTP and incorporates into viral cells, which terminates the DNA replication in viral cells
35
Q

Wet Beriberi

A
  • Thiamine (B1) deficiency
  • Peripheral edema
  • Cardiac failure
36
Q

Dry Beriberi

A
  • Thiamine (B1) deficiency
  • Muscle wasting
  • Partial paralysis
37
Q

Pellagra

A
  • Niacin (B3) deficiency
  • 4 D’s = Diarrhea, Dementia, Dermatitis, Death
  • Secondary to malnutrition from alcoholism, bariatric surgery, or malabsorption disease

***Trp is precursor for Niacin (Hartnup)

38
Q

Pernicious anemia

A
  • Deficiency of Cobalamin (B12)
39
Q

Scurvy

A
  • Vitamin C deficiency
  • Prominent cutaneous signs (scabs)
  • Gingivitis
  • Arthralgias
  • Impaired wound healing
  • Treatment = eating citrus fruits
40
Q

Childhood rickets or Osteomalacia in adults

A
  • Vitamin D deficiency
  • Delayed growth
  • Pain in spine, pelvis, and legs
  • Bowed legs
  • Thickened wrists and ankles
  • Breastbone projection

***Chvostek’s/Trousseau’s signs

41
Q

Paresthesia and Dysesthesias (“Burning Feet Syndrome”)

A
  • Vitamin B5 deficiency

- Needed for synthesis of Coenzyme A

42
Q

Multiple Carboxylase Deficiency (MCD)

A
  • Vitamin B7 deficiency
  • Dermatitis around eyes, nose, and mouth
  • Conjunctivitis
  • Alopecia
  • Neurological symptoms
43
Q

Homocysteinemia
Microcytic Megaloblastic Anemia
Spina bifida (during pregnancy)

A
  • Vitamin B9 deficiency
44
Q

Pathological ketoacidosis

A

Occurs when the glucagon:insulin ratio is increased, which favors FA breakdown (so you have a lot of glucose)
-reduced OAA

CLINICAL: acetone breath, fruity odor

45
Q

Hyperhmocysteinemia and homocystinuria

A

caused by..
-vitamin (B6, B12, folic acid) deficiencies)
-genetic defects in enzymes
defective metabolism of homocysteine (need PLP in order to convert homocysteine)

CLINICAL: risk of heart attach and stroke, which can lead to neuropsychiatric illness

46
Q

Maple Syrup Urine disease

A

Defect in the breakdown of branched chain amino acids secondary to the branched chain alpha-keto acid dehydrogenase complex (BCKD) which leads to acuduria

CLINICAL: maple syrup smelling urine, and branched chain accumulation in the blood which can be toxic to the brain and eventually lead to mental retardation

47
Q

Phenylketonuria (PKU)

A

defect in the activity of phenylalanine hydroxyls (PAH) which is the most common inborn error of metabolism (IEM)

  • phenyalalnine is converted into phenyllactate and phenyl acetate which disrupt neurotransmission and block amino acid transport in the brain
  • interferes with myelin production
  • severe brain impairment
48
Q

Albinism

A

Lack of melanin secondary to defects in tyrosinase which doesn’t allow tyrosine to be converted into melanin

CLINICAL: partial or complete absence of skin pigmentation

49
Q

Hyperammonemia

A

Deficiency in the carboxyl phosphate synthetase 1, which produces carbomyl phosphate which enters into the urea cycle and leads to an increase in ammonia in the body

autosomal recessive

50
Q

Hyper/hypo thyroidism

A

Over or under production of hormones T3 and T4

autosomal recessive disorder

51
Q

Ammonia toxicity

A

Excessive ammonia due to disorders in the urea cycle or liver failure

NH3 is toxic and can cause problems to the brain, liver, and CNS

CLINICAL: pH imbalance, swelling of the astrocytes in the brain, cerebral edema and intracranial HTN, decrease in glutamate secondary to the glutamate dehydrogenase switching the glutamate to alpha=ketoglutarate (inhibiting TCA)

52
Q

How is urea production increased in regards to diet? How is it decreased?

A

High protein diet increases the urea cycle and a high carb diet decreases the urea cycle

53
Q

Describe GMP and dGTP deprivation

A

There is an issue with the oxidative conversion of IMP to XMP, which is catalyzed by the IMP dehydrogenase. This decreases GMP levels

-Can be used as an immunosuppressant drug to prevent rejection in that GMP is inhibited

54
Q

Severe Combined Immunodeficiency (SCID)

A

X linked disorder that affects both of the arms of the adaptive immune system (B and T cells, which leads to a crap immune system.

ADA is the most common, which leads to an increase in AMP and dATP production, which will in turn inhibit all of the other nucleotides from being made, which will destroy the immune system

55
Q

Gout

A

Primary hyperuricemia- over production of uric acid

Secondary hyperuricemia- under excretion of uric acid

CLINICAL: high levels of uric acid in the blood
painful deposits of sodium rate in the joints
‘diet can make it worse with increased purines

Treatment: allopurinol can inhibit the enzyme xanthidine oxidase, which will not be converted into uric acid

56
Q

What are the normal levels of uric acid and serum rate levels?

A

Adult males: 4-8.6 mg/dL
Adult females: 3.0-5.9 mg/dL
serum rate levels >9 mg/dL increase the risk of gout

57
Q

Lesch Nyhan syndrome

A

Defect in the HGPRT in the purine salvage pathway

CLINICAL: leads to gout, kidneys stones, mental retardation, SELF MUTILATION
crazy high uric acid levels and purine levels

58
Q

Kelley-Seegmiller syndrome

A

<8% normal HGPRT activity

Gout and kidney destruction but NO neurological sx

Diseases (8 decks)

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