Proteins and NPNs

the four aminoacidopathies

PKU

Tyrosinemia

Alkaptonuria

Cystinuria

PKU

phenylketonuria

what does PKU cause

seizures

musty/mousy odor

eczema

intellectual disability if left untreated

what test method is used for PKU

guthrie test

what does PKU lead to the build up of

phenylalanine

is guthrie test qualitative or quantitative

qualitative

what is the principle of the Guthrie test

reversal of bacterial inhibition

what does tyrosinemia cause

failure to thrive

cabbage odor

rickets

hepatocellular carcinoma

test method for tyrosinemia

newborn screen and immunoassay

what does tyrosinemia cause the build up of

tyrosine and succinylacetone

Alkaptonuria

accumulation of homogentisic acid due to enzyme deficiency

what disease causes dark urine upon standing

alkaptonuria

what disease causes ochronosis and degenerative arthritis due to build up of homogentisic acid

alkaptonuria

what fluid is used to test for alkaptonuria

urine

Cystinuria causes what symptoms

recurrent kidney stones

hematuria

flank pain

what causes cystinuria

renal reabsorption defect

what can be found in urine of patient with cystinuria

cystine crystals in acid urine

what test method is used for cystinuria

cyanide nitroprusside test

what percent of protein is made up of nitrogen

16%

what bonds hold amino acids together

peptide bonds

where are most plasma proteins synthesized

liver (except immunoglobulins and hemoglobin)

what does total protein evaluate

patients with edema and other fluid distribution disorders

Total protein reference range

6.5-8.3 g/dL

classic protein test method

Kjeldahl

what does Kjeldahl assume

avg of 16% nitrogen mass in proteins

what is the most widely used total protein test method

Biuret

Biuret test

cupric ions complex with peptide bonds to form a purple complex

pl

isoelectric point

isoelectric point

pH at which a protein has no net charge.

what protein has the lowest pl

albumin

which protein travels the farthest in SPE

albumin

what are the 5 protein bands in SPE

Albumin travels furthest

a1 globulins

a2 globuilins

B globulins

Y globulins

what is the only protein to migrate ahead of albumin in SPE

pre-albumin

what is pre albumin a sensitive indicator of

nutritional status

what causes decrease in pre albumin

protein deficient diet

tissue necrosis

hepatic dmg

what causes increase in pre albumin

steroids

alcoholism

chronic renal failure

Albumin reference range

3.5 - 5.5 g/dL

albumin function

maintains fluid balance in tissue

transport bilirubin

Analbuminemia

Absence of albumin

Bisalbuminemia

albumin that has unusual molecular characteristics

what causes increase in albumin

dehydration

what causes decrease in albumin

muscle wasting

malnutrition

liver or renal disease

what is the most specific dye for albumin

Bromocresol purple BCP

what is the most commonly used dye for albumin

Bromocresol Green BCG

a1 globulins

a1 antitrypsin

a1 fetoprotein

a1 glycoprotein

a1 antitrypsin function

inhibits trypsin and proteolytic enzymes

prevents the breakdown of tissues

what does decrease in a1 antitrypsin cause

increased risk of cirrhosis and emphysema

what is a1 fetoprotein used to screen for

fetuses with high risk for open neural tube defects and down syndrome

increase vs decrease a1 fetoprotein

increase = open neural tube defects

decrease = trisomy 21

what is the highest concentration a1 globulin on SPE

a1 acid glycoprotein

a1 acid glycoprotein

binds and can inactivate drugs

increase or decrease of a1 acid glycoprotein

increase = APR

decrease = protein losing syndrome

a2 globulins

a2-macroglobulin

haptoglobin

ceruloplasmin

a2-macroglobulin

protease inhibitor

major contributor to zone on SPE

increase or decrease of a2 macroglobulin

increase= nephrotic syndrome or increased estrogen

decrease= severe acute pancreatitis or prostate carcinoma

Haptoglobin function

binds free Hgb

what does unbound hgb cause

kidney damage

increase or decrease of haptoglobin

increase= APR

decrease= intravascular hemolysis or hemolytic anemia

ceruloplasmin

contains 95% of total serum copper

what disease is decreased ceruloplasmin associated with

wilsons disease

beta globulins

complement

CRP

Transferrin

fibrinogen

increase or decrease of complement

increase= inflammation

decrease= lupus, malnutrition, DIC

CRP function

binds and helps with phagocytosis

hsCRP

high-sensitivity C-reactive protein

increase of CRP cause

infection

tissue dmg

cell necrosis

what disease can CRP be used to evaluate

Cardiovascular disease

Transferrin function

transports iron

what is transferrin used to determine

cause of anemia

increase of transferrin points to what

iron deficiency anemia

fibrinogen function

forms fibrin clot

increase or decrease fibrinogen

increase= APR, pregnancy

decrease= extensive coagulation

y-globulins

immunoglobulins

myoglobin function

oxygen carrier in all muscle cells

what is released when striated cardiac muscle and skeletal muscle is damaged

myoglobin

what does troponin bind to

striated muscle

isoforms of troponin

TnT, TnI, TnC

what troponin isoforms are tested clinically

TnT, TnI

what is the most tested for troponin isoform

TnI

what could cause troponin levels to rise

MI

Cystatic C is an early mark of what

mild renal damage

what is a more precise test of GFR than serum creatinine

Cystatin C

if kidney function and GFR decline what does it do to blood Cystatin C levels

raises it

BNP is produced where and its function

myocardial ventricles

vasodilation

what is BNP used to dx and monitor

CHF

will be increased if CHF is present

CHF

congestive heart failure

fFN

fetal fibronectin

what is fFN used to determine

the likelihood of premature labor and delivery

who or what secretes fFN

the fetus

fFN concentration increases in cervical and vaginal secretions when what happens

cellular adhesion between the placenta and uterine wall is disrupted

amyloid

insoluble fibrous protein aggregates

what protein is associated with alzheimers disease

amyloid

what is homocysteine used to determine

vit B12 or folate deficiency

can be abnormal before b12 and folate tests are abnormal

when are CSF proteins increased

meningitis

immune disorders of CNS

Transudate fluid

fluid that accumulates due to systemic factors

ex. CHF, cirrhosis, nephrotic syndrome

Exudate fluid

fluid that accumulates due to inflammation

ex. infection, pneumonia, pancreatitis

Where is creatine synthesized?

liver

what organ converts ammonia to urea

liver

what organ breaks down purines to uric acid

liver

what organ filters out urea, uric acid, and creatinine

kidneys

Urea is the same as

BUN