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65 Cards in this Set

  • Front
  • Back

Gaucher disease defficiency

glucocerebrosidase

Niemann Pick defficiency

sphingomyelinase

Tay Sachs defficiency

Hexosaminidase A

Surfactant

Produced by Type II alveolar pheumocytes



Reduces surface tension

3 lung maturity tests

Lamellar bodies


phosphatidyl glycerol


Lechtin:Sphingomeylin ratio

Hepatic encapathy

patient passed out because of an ammonia build up

Maple Syrup Urine Disease (MSUD)

Defect in branched chain amino acid metabolism



Branched chain amino acids

Valine


Leucine


Isoleucine

Disorder in metabolism of phenylalanine



blonde hair, blue eyes, mental retardation

PKU


Phenylketonuria




Structure of proteins

Primary--Chain of amino Acids


Secondary--Alpha helix or Beta pleated sheet


Tertiary--Mix of Alpha and Beta


Quarternary --Mix of two or more tertiary structures

Liver Function tests

Albumin, PT, PTT, AST, ALT, ALP, GGT

Biuret Test

quantifies the number of peptide/amide bonds



need at least two bonds

Negative acute phase reactants

Albumin, preAlbumin, Transferin

Serum protein electrophoresis conditions

pH 8.6


Agarose Gel

Albumin function

maintains oncotic pressure



retains water in the capillaries



Negative charge at normal pH


Albumin normal range

3.5-5.5 g/dL

Prealbumin

Marker for nutrition



half life is 3 days



shows up before albumin on SPEP

Hypoalbuminemia causes

liver disease, malnutrition, nephrosis, cancer, burns

Albumin testing

Dye binding using BCG or BCP

Critical value for Albumin

Below 2g/dL, patient is in lung failure

Alpha 1 Anti Trypsin deficiency

Young patients will get emphysema


Alpha fetal protein increase

Open neural tube defects



spina bifida



high in pregnant women

Alpha fetal protein decrease

Downs (trisomy 21)



Edwards (incompatible with life)

Ceruloplasma

found in Alpha 2 zone on SPEP



Patient serum is blue



carries copper

Nephrosis

increased alpha 2 peak

Chronic inflammation

staircase effect



Albu is low, gamma is high




caused by sarcoid, TB


Chronic liver failure

Beta-Gamma bridge


Increased IgA--leads to the bridge

Multiple Myeloma SPEP

M spike in gamma region



Multiple Myeloma

Plasma cell dysplasia



Tumors in bone and axial skeleton (punched out holes)



M protein--produces one immunoglobulin with one light chain

MGUS



monoclonal gammopathy of uncertain significance

smaller spike in the gamma region than multiple myeloma



NO BACKGROUND SUPPRESSION OF THE GAMMA REGION

What do enzymes do

Lower activation energy

Zero Order kinetics

No matter how much substrate you add, the reaction doesnt go any faster

First order kinetics

goes faster with more substrate

Competitive inhibition

binds at active site, directly competes



Same Vmax, but gets there slowly

noncompetitive inhibition

binds at site, other than active site



lowers Vmax

Calcium oxolate crystals in the urine

due to drinking antifreeze

Liver enzymes

AST, ALT, ALP, GGT, LDH

Heart enzymes

CPK, LDH

Pancreas

Amylase, Lipase

Transaminases

Transfer amine groups from amino acids to alpha keto acid groups



if AST is increased, ALT is needed to confirm liver problems

Cholestasis

Bile cannot leave the liver



either cannot leave the bile ducts(extrahepatic) or hepatocytes(intrahepatic)



PT ends up jaundice

Cholestasis causes

Gaul stones


Anabolic steroids


Birth control (potential for blue serum)

GGT

marker for alcoholism



elevated in hepatitis and cholestasis



specific for the liver

ALT

Specific to the liver

AST

marker for liver damage, but is not specific to just the liver

PT, PTT

all clotting factors are made in the liver (except Fc8)



increased in cirrhosis



tests for synthetic capacity of liver

Albumin

decreased in cirrhosis



negative acute phase reactant

ALP

Cholestasis if increased, not specific for the liver though



if GGT is normal, problem is not in the liver



also found in growing kids, placenta, intestine

Most common hepatotoxin

Tylenol

Amylase

Good sensitivity, poor specificity



can be measured in the urine for days after

Lipase

good sensitivity and specificity



HIGHEST SPECIFICITY FOR PANCREATITIS



Stays elevated in the serum longer (~1 week)

Location of the pancreas

retroperitoneal cavity

statorrhea

fat globules in the stool



found in pancreatitis



sudan III stain--stains fat

Alcoholic pancreatitis

Alcohol keeps enzymes in the pancreas-->opening of the panceras closes-->Pancreas digests itself-->Blows up-->digests everything else-->digests lungs-->Dead

Myocardial infarction



MI

90 minutes



25% of cases need chemical diagnosis

C reactive protein



CRP

surrogate marker for atherosclerosis

intercollated disks

connect cardiac myocytes

Myoglobin

similar to hemoglobin, higher affinity for O2



early marker for MI, poor specificity

Troponin

Protein associated with actin and myosin movement



Specific and early for MI



Stays elevated for 6-7 days


CK-MB

Specific but late for MI



3 isoforms (CK-BB, CK-MB, CK-MM)

BNP



Brain Naturietic Peptide

Marker for heart failure



counter balances RAAS, pee's out excess sodium



produced by stretched myocytes

ectopic enzyme production

a tissue that normally doesnt produce the enzyme (CK) will produce it



Produced enzyme (CK) at a constant level


^differentiates it from MI


^^Happens in prostate cancer

Troponin isoenzymes

Troponin I,T,C



C is not used



AMC uses Troponin I


Troponin T is also used

Lactate dehydrogenase



LDH

Found everywhere, especially RBCs



5 isoenzymes (1,2,3,4,5)


LD flip

LD 1 is greater than LD2