Amino Acids And Proteins

Front 1

Essential amino acids

Back 1

Histidine, isoleucine, leucine, lysine, methionine, phenylalanine, threonine, tryptophan, and valine.

Front 2

Which amino acids come from the diet?

Back 2

Phenylalanine, threonine, tryptophan, and valine. Tryptophan is associated with turkey.

Front 3

How many amino acids can we synthesize?

Back 3

11.

Front 4

Non essential amino acids and which are crystals?

Back 4

Alanine, arginine, asparagine, aspartic acid, cysteine, glutamine, glycine, glutamic acid, proline, serine, and tyrosine. Cysteine and tyrosine.

Front 5

PKU: Phenylketonuria

Back 5

Inherited disorder due to an autosomal recessive trait. Infants are born without the enzyme phenylalanine hydroxylase necessary to break down amino acid phenylalanine. It builds up in the blood stream and attacks the CNS.

Front 6

Effects of PKU and how many children get it?

Back 6

Mental retardation. 1 in 10-15,000.

Front 7

What foods contain phenylalanine?

Back 7

Milk, eggs, and other common foods. Artificial sweetener NutraSweet (Aspartame) also contains phenalanine. Anything with Aspartame should be avoided.

Front 8

What kind of formula is used for infants with PKU?

Back 8

Lofenalac. Can be used throughout life as protein source that's extremely low in phenylalanine and balanced for the remaining essential amino acids.

Front 9

Most common effect of PKU

Back 9

ADHD in those who don't stick to low-phenalanine diet. Can cause brain damage if left untreated.

Front 10

Smell of urine, breath, and skin: patients with PKU

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Mousy or musty. Due to build up of phenylalanine in the body.

Front 11

Maple syrup urine disease

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Caused by gene defect. Patients can't break down the branched chain amino acids leucine, isoleucine, and valine. Leads to build up of chemicals in blood and urine smells of maple syrup.

Front 12

MSUD in the most severe form can damage:

Back 12

Brain during times of physical stress (such as infection, fever, and not eating for a long time).

Front 13

What forms does MSUD occur in?

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Intermittent form and mild form. Even the mildest form can cause mental retardation and high levels of leucine.

Front 14

What community does MSUD predominantly occur in? Number who get it.

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Mennonites. 1 in 85,000 infants.

Front 15

Treatment of MSUD

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Protein free diet, man made infant formula, and perionatal/ hemodialysis to reduce amino acids. Fluids, fats, and sugars can also be given IV.

Front 16

What kind of diet is applied with MSDU?

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Free of branched chain amino acids is started when amino acid levels are normal. Long term treatment. Must remain on diet permanently. Can be fatal.

Front 17

Possible complications of MSDU and prognosis.

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Coma, death, and neurological damage. Can be life threatening if left untreated. Even with treatment, stressful situations and illness can still cause high levels of certain amino acids. Death can occur. Can grow into normal adulthood if treatment is established.

Front 18

Isovaleric Acidemia health problems

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Range from mild to life threatening. Severe cases, it becomes apparent within a few days of birth.

Front 19

Initial symptoms of isovaleric acidemia

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Poor feeding, vomiting, seizures, and lethargy. Sometimes progress to more serious medical problems such as seizures, coma, and possibly death.

Front 20

How many people does Isovaleric Acdemia occur in?

Back 20

1 in 250,000.

Front 21

Characteristic sign of isovaleric acidemia and what is it caused by?

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Distinct odor of sweaty feet with acute illness. Caused by buildup of a compound called isovaleric acid.

Front 22

Signs and symptoms of isovaleric acidemia

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Children may fail to gain weight and grow at expected rate (failure to thrive) and often have delayed development. (may come and go over time) Episodes of more serious health problems can be caused by prolonged periods of fasting, infections, or eating an increased amount of protein rich foods.

Front 23

Homocystinuria

Back 23

Inherited disorder in which the body is unable to process certain amino acids properly.

Front 24

Most common form of homocystinuria is caused by:

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Lack of enzyme called cystathionine beta synthase.

Front 25

Most common form of homocystinuria is characterized by:

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Dislocation of the lens in the eye, increased risk of abnormal blood clots, and skeletal abnormalities. Problems with development and learning are also evident in some cases.

Front 26

Number of people who get homocystinuria

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1 in 250,000. More common in Ireland, Germany, Norway, and Katar. 1 in 3,000.

Front 27

Cystinuria

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Condition characterized by the buildup of cystine crystals (6 sided shape) or stones in the kidneys and bladder.

Front 28

What happens with cystine as it filters through the kidneys with Cystinuria?

Back 28

It is normally absorbed back into the bloodstream, but can't reabsorb back into bloodstream properly and amino acids accumulate in their urine. As urine becomes more concentrated in kidneys, excess cystine forms crystals.

Front 29

How many people get Cystinuria?

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1 in 10,000.

Front 30

What happens as cystine crystals become larger?

Back 30

They form stones that may lodge in the kidneys or in the bladder. Can combine with calcium molecules and form larger stones. Can create blockages and reduce ability of kidneys to eliminate waste through urine. Stones also provide sites where bacteria may cause infections.

Front 31

Citrullinemia

Back 31

Inherited disorder that causes ammonia and other toxic substances to build up in the blood.

Front 32

Type 1 Citrullinemia

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Aka Classic Citrullinemia. Usually becomes evident in the first few days of life affected infants typically appear normal at birth, but ammonia builds up in body after they experience excessive lethargy, poor feeding, vomiting, seizures, and loss of consciousness. Mostly life threatening.

Front 33

Mild form of type 1 Citrullinemia

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Less commonly a milder form can develop in childhood or adulthood. Associated with intense headaches, partial loss of vision, ataxia, and lethargy. Some people with gene mutations that cause type 1 never experience s/s.

Front 34

Type 2 Citrullinemia

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Affects nervous system, causing confusion, restlessness, memory loss, abnormal behaviors, seizures, and coma. Can develop during adulthood. *found primarily in Japanese*

Front 35

What are s/s of type 2 Citrullinemia caused by?

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Certain meds, infections, surgery, and alcohol intake.

Front 36

The features of adult onset type 2 Citrullinemia may also develop in:

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People who as infants had a liver disorder called neonatal inthrahepatic cholestasis caused by a citrin deficiency or NICCD. Also known as neonatal onset type 2 Citrullinemia.

Front 37

What does NICCD block?

Back 37

Flow of bile and prevents the body from processing certain nutrients properly.

Front 38

Type 1 Tyrosinemia

Back 38

Most severe form. Caused by a shortage of the enzyme fumarylacetoacetate hydroplane.

Front 39

Type 1 Tyrosinemia

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Most severe form. Caused by a shortage of the enzyme fumarylacetoacetate hydroplane.

Front 40

Symptoms of type 1 Tyrosinemia

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Usually appear in the first few months of life and include failure to thrive, diarrhea, vomiting, jaundice, cabbage like odor, and increased tendency to bleed. Can lead to liver and kidney failure, problems effecting the nervous system, and increased risk of liver cancer.

Front 41

Type 2 Tyrosinemia

Back 41

Caused by deficiency of enzyme tyrosine aminotransferase.

Front 42

Type 2 Tyrosinemia

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Caused by deficiency of enzyme tyrosine aminotransferase.

Front 43

Type 2 Tyrosinemia symptoms

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Can affect eyes, skin, and mental development. Excessive tearing, photophobia, eye pain and redness, and painful skin lesions on palms and soles. 50% have some intellectual disability.

Front 44

Type 3 Tyrosinemia

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Rare disorder caused by deficiency of the enzyme 4-hydrozyphenylpyruvate dioxygenase.

Front 45

Characteristics of type 3 Tyrosinemia

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Intellectual disability, seizures, and periodic loss of balance and coordination.

Front 46

Cause of elevated levels of tyrosine in newborns

Back 46

Not genetic. About 10% of newborns temporarily have elevated tyrosine levels usually caused by vitamin C deficiency or immature liver enzymes due to premature birth.

Front 47

Where is Tyrosinemia most prevalent?

Back 47

Quebec.

Front 48

Structure of proteins

Back 48

Amino acids held together by peptide bonds. Alpha helix or beta pleated sheets. *tertiary, quarternary etc.* Coated in 3 base pairs.

Front 49

Functions of proteins

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Enzymes, antibodies, transport etc.

Front 50

Where are proteins made? Which proteins are exceptions?

Back 50

Liver. Exceptions are immunoglobulins and protein hormones.

Front 51

Plasma proteins

Back 51

Prealbumin (transthyretin) and albumin.

Front 52

Alpha 1 proteins

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Antitrypsin and fetoprotein.

Front 53

Alpha 2 proteins

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Haptoglobin and ceruloplasmin.

Front 54

Beta proteins

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Pro Beta lipoprotein (VLDL)

Transferrin

Beta lipoprotein (LDL)

Fibrinogen

C-Reactive

Front 55

Gamma proteins

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IgG, IgA, IgM, IgE, and IgD.

Front 56

Prealbumin function

Back 56

Transport protein for thyroid hormones and vitamin A.

Front 57

Albumin

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60% of serum proteins. Maintains proper tissue fluid balance and to bind with certain substances in the blood (bilirubin, salicylic acid, fatty acids, calcium, mg, cortisol, drugs).

Front 58

Increased albumin levels

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hemoconcentration (dehydration), monoclonal gamopathy

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Decreased albumin levels

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nephropathy, loss of blood, malnutrition, gastrointestinal disease, liver disease

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Reference range of albumin

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3.5-5 g/dL

Front 61

Most commonly used dyes for albumin

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Bromcresol blue and bromcresol purple. Either bold almost exclusively with albumin and the read spectrophotometrically.

Front 62

Fetoprotein

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Fraction synthesized by the fetus (first in the yolk sac then liver). Detectable in maternal blood and is used to detect spinal bifida.

Front 63

Increased alpha fetoprotein

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Spinal bifida, neural tube defects, multiple births

Front 64

Decreased alpha fetoprotein

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Down's syndrome.

Front 65

Antitrypsin

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Acute phase reactant. Neutralizes trypsin like enzymes that cause hydrolytic damage to structural proteins.

Front 66

Decrease of Antitrypsin

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Emphysema like pulmonary diseases.

Front 67

Alpha lipoprotein (HDL)

Back 67

Transportation of lipids.

Front 68

Haptoglobin

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Alpha 2 protein. Binds to free hemoglobin to keep it from being lost in urine.

Front 69

Decreased Haptoglobin

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Intravascular hemolysis after transfusion, HDN

Front 70

Ceruloplasmin

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Copper transport protein. Copper is required in hemoglobin synthesis and in forming enzymes.

Front 71

Decreased ceruloplasmin

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Wilson's syndrome, malnutrition, and minky's hair syndrome.

Front 72

What does Wilson's syndrome form and what is it?

Back 72

Kayser fleisher rings. Copper is deposited in skin, liver, brain, and eye.

Front 73

Denaturation

Back 73

Breaking down of proteins. Taking amino acids apart.

Front 74

Minky's hair syndrome

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Brittle hair and causes loss of elasticity in vessel walls resulting in aneurysms.

Front 75

Pre beta lipoprotein (VLDL)

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Transports lipids, primarily triglycerides.

Front 76

Beta lipoprotein (LDL)

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Transports lipids, primarily cholesterol.

Front 77

Transferrin

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Aka Siderophillin. Binds with ferric iron to prevent its loss through the kidneys. Transfers iron to storage sites. This bound iron can't be deposited in tissues.

Front 78

Decreased fibrinogen

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DIC and hemochromatosis (Bronze Diabetes)

Front 79

C-Reactive protein

Back 79

Fraction that's increased in inflammatory disease and tissue necrosis.

Front 80

What is hs-CRP a good indicator of?

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Possible development of CAD

Front 81

Myoglobin

Back 81

Protein found in skeletal and cardiac muscle where it can reversibly bind to oxygen. Increases 1-3 hours after AMI, peaks at 5-12 hours and returns to normal at 18-30 hours.

Front 82

Increased levels of myoglobin

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Skeletal muscle damage and muscle dystrophy.

Front 83

Troponins

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Complex of 3 proteins that bind the thin filaments of striated muscle leading to muscle contraction.

Front 84

Byproduct of denaturation of proteins

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Ammonium iron, which is broken down into urea.

Front 85

Isoforms of Troponins

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cTNT and cTNI.

Front 86

Amyloidosis

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Potentially life threatening condition that can occur because of some cancers. Amyloid, an abnormal protein, enters tissues and organs. When enough amyloid proteins are present to interfere with function, it's called Amyloidosis.

Front 87

What are amyloid proteins produced by?

Back 87

Plasma proteins: produce antibodies that cannot be broken down.

Front 88

AL Amyloidosis and what is it sometimes associated with?

Back 88

Most common type of Amyloidosis in U.S.

Front 89

AA Amyloidosis

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Amyloid protein that accumulates in the tissues is known as the A protein. Associated with chronic diseases. May also accompany aging. Spleen, liver, kidneys, adrenal glands, and lymph nodes may be involved.

Front 90

Hereditary Amyloidosis and what can it cause?

Back 90

Can be passed down from generation to generation. May cause peripheral sensory and motor neuropathy, carpal tunnel syndrome, and eye abnormalities.

Front 91

Most common subtypes of Amyloidosis involve which protein? How many are affected?

Back 91

Transthyretin. 2000 people per heat. 12-15% with Multiple Myeloma develop systemic AL Amyloidosis.

Front 92

BNP and NT-proBNP

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B type, or brain, natriuretic peptide. First isolated from brain, but synthesized in ventricles of heart. Maker of CHF.

Front 93

What does BNP act on?

Back 93

Renal glomerulus through urinary excretion of sodium. Doesn't effect GFR.

Front 94

Elevated BNP

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Increased probability of heart failure and further cardiac assessment is warranted.

Front 95

NT-proBNP testing has the same clinical untility as

Back 95

BNP

Front 96

NT-proBNP and BNP are markers of

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cardiac dysfunction that correlates with the severity of symptomatic/asymptomatic left ventricular hypertrophy and CHF.

Front 97

Since NT-proBNP levels correlate strongly with CHF, either can be used to

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triage symptomatic patients (patients with dyspnea)

Front 98

Reference range of BNP

Back 98

Less than 100 pg/mL

Front 99

Reference range of serum proteins

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6.5-8.5 g/dL

Front 100

Method most often used to measure total protein

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The biuret method. Dependent on peptide bonds in proteins. Serum is treated with Cu ions and colored chelate is formed.

Front 101

What can increase levels of TP?

Back 101

Prolonged application of tourniquet and multiple myeloma.

Front 102

How much lower are TP levels for non ambulatory patients?

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.3 g/dL lower.

Front 103

Increased protein levels

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Dehydration (hemoconcentration), monoclonal gamopathy.

Front 104

Decreased protein levels

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nephropathy, loss of blood, malnutrition, gastrointestinal issues, liver disease.

Front 105

One big worry about proteins

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Can become denatured because of heat, acid, pH, and radiation. Slight change can change metabolism.

Front 106

What proteins are associated with multiple myeloma?

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Bence Jones.

Front 107

Glomerular proteinuria

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Increased glomerular permeability.

Front 108

Tubular proteinuria

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Defective tubules. Affects reabsorption of proteins.

Front 109

Overload proteinuria

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Increase plasma proteins.

Front 110

Postrenal proteinuria

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Below the bladder. Some type of inflammation in urinary tract.

Front 111

Measurements of urinary proteins

Back 111

Dipstick, based on protein error of indicators. Turbidimetric methods: SSA-Sulfosalicylic Acid interferes to this method to include increased WBC and Radiopaque. Quantitation- tricholoacetic acid is the reagent.

Front 112

Where is CSF formed? How much is produced?

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Ventricles of brain. 800 mL produced daily, but only about 140 mL present at any one time.

Front 113

Reference range of CSF

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Premies/Neonates: up to 130 mg/dL

Adult (10-40) 15-45 mg/dL

Healthy older adults: up to 60 mg/dL

Front 114

Increase of CSF

Back 114

Brain tumors, brain bleed, traumatic injuries, MS, meningitis, intracranial pressure, and most frequently with fungal bacterial infections.

Front 115

Traumatic tap

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Falsely increases CSF proteins.

Front 116

Dye/reagent used for CSF

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Coomassie blue.

Front 117

Measurement of CFS

Back 117

Turbidimetric: SSA or trichloroacetic acid