Module 1 Final Exam

uroporhyrin

most soluble and secreted in the urine

coproporphyrins

intermediate solubility and excreted in urine and feces

protoporphyrins

insoluble and excreted in feces

Acute Intermediate porphyria(AIP)

Hydroxymethylnilase synthase

high urinary PBG (red wine color urine)

acute abdominal pain peripheral neuropathy

Porphyrias Cutanea Tarda

Uroporporphyrinogen decarboxylase

high urinary Uro heptacarboxylate

fragile skin, blisters, hyperpigmentation, liver damage

Variegate Porphyria

Protoporphyrinogen oxidase

high urinary PBG, Corpo-III, pro and Fecal Proto IX

acute neurological attacks, skin lessions

Erythropoietic Protoporphyria

ferrochelatase

high RBC and prtoporphyrin in BM

photosensitivity-nonblistering, build up in skin

Congenital Erythropoietic Porphyria

uroporporphyrinogen II synthase

high RBC protoporphyrin urinary uro I and corps III

severe photosensitivity with bull and hemolysis

Vitamin B1(Thiamine)

Wernicke-Korsakoff Syndrome and most affected are chronic alcoholics

Vitamin B3(Niacin)

Pellagra- Diarrhea, Dermatitis, dementia, and death

Vitamin B9(Folic acid)

Abnormal Hematopoiesis causing megaloblastic anemia because if hindered DNA synthesis and cell division(greater frequency in cell division)

Vitamin B12(Cobalamin)

pernicious anemia and megaloblastic anemia

What does vitamin B12 need and what a 3 general causes of its deficiency

intrinsic factor (inadequate IF, inadequate B12/IF complex, inadequate absorption of B12

Vitamin C(Asorbic Acid)

Scurvy (swollen gums/loss of teeth, skin lesion, reduced wound healing)

Vitamin A(Retinol)

Xerophthalmia, lessions of tissues

Acute Vitamin A excess

drowsiness, irritability, headaches

Chronic Vitamin A excess

coarse hair, eyebrow hair loss, skin dryness

Vitamin E(tocopherol) deficiency

myopathy and peripheral neuropathy

Vitamin K(phylloquinone) function

synthesis is drive proteins involved in blood coagulation which prevents bleeding to death from its and wounds, internal bleeding

Vitamin K deficiency

ecchymosis, petechiae, hematomas

Copper

antioxidant protecting form cellular damage formation (anemia, WD)

Selenium

assists with Vitamin E cofactor to enzymes(cardiomyopathy)

Zinc

cell division and growth as metalloenzyme (depressed growth and immune function)

Pre Albumin

nutritional Status, T3/T4, negative APR

Albumin

transports water soluble materials, helps maintains osmotic pressure, negative APR

Antitrypsin (AAT)

attacks airway tree, emphyzema

Acid glycoprotein (AGT)

Act against progesterone, acute inflammatory

Fetoprotein

either multiples or disorders, tumors/twins

Haptoglobin

free hemoglobin hugger, hemolytic anemia

Ceruloplasim

copper hugger, transports copper, Cu deposits into skin(WD and KF rings)

Macroglobulin

too big to lose, nephrotic syndrome, not APR

IgG

guardian, viruses/bacteria

IgA

Armor, external surfaces/secretions

IgM

Muscle/Ambulance, can’t pass placenta and first repsosne

IgE

eeeek! allergies

IgD

Defender/ B-lympocytes

Multiple myeloma

monoclonal(rare IgM) IgG and IgA

bone lessions and pain

Macroglobulinemia

monoclonal(always IgM)

Enlarged liver, spleen, lymph nodes

Tranferrin

transport iron

B-microglobulin

99% absorbance

C-reactive protein

coronary, inflammation(non-specific)

fibrinogen

clotting

complement

inflammatory response

Aminotransferase(AST)

liver, cardiac, skeletal

viral hepatitis, liver carcinoma, muscular dystrophy

Alanine Aminotransferase(ALT)

Acute: hepatocellular disorders that correlate with AST hepatic release

Chronic: hepatitis, liver carcinoma

Alkaline Phosphatase(ALP)

Liver, bone, intestine, placenta,

lining of sinusoids and bile canaliculi(hepat disease)

billiard tract obstruction

Gamma-glutamyltransferase(GGT)

liver and pancreas

monitors hepat diseases/chronic alcoholism

high ALP and ___ confirm biliary tree

___ synthesis is induced to check for abstinence of substances

Cholinesterase(Che)

1. Patient will react to general anesthesia

2. Decrease in liver disease, burns, starvation/malnutrition

3. high levels=error of hemolysis

Creatine Kinase(CK)

CK-BB(brain tissue)CVA, CK-MB(cardiac tissue)MI, CK-MM(muscle tissue) Duchens

**allows hemolyzed smaples

Lactate Dehydrogenase(LD)

Brain, WBC, RBC, kidney, liver, lung, cardiac, skeletal, muscle

hapatobiliary disease, megaloblastic and pernicious anemia

MI when LD-1>LD-2

Pulmonary when LD-3 high

Liver when LD-5 high

Aldolase(ALS)

skeletal muscle, liver, brain

muscular dystrophy

Amylase(AMS)

Pancreas(P isoenzyme) and Salivary glands(S isoenzyme)

Acute- 2-3xULN Mumps 2xULN

Lipase(LPS)

pancreas

acute and chronic pancreatitis

Glucose-6-phosphate dehydrogenase(G-6-PD)

RBC, adrenal cortex, lymph nodes, thymus, spleen

hemolytic anemia

Acid Phosphatase(AP)

Prostate

detections of prostate carcinoma and sexual assault

5’-Nucleotidase

biliary epithelium

analyzed along with ALP if hepatic biliary(liver) problems suspected

Cystinuria

tubular reabsorption defect

Cytosine, ornithine, lysine, arginine

crystals in urine

Hartnup Disease

tubular reabsorption defect

neutral non carboxylic amino acid in urine

VB deficiency, pellagra, Neurological/muscular disorders

N/A crystals

Fanconi Syndrome

renal dysfunction of proximal colvulate tubular

BUGAP

Polyuria, dehydration, hypokalemia, osteomalacia

N/A crystals

Phenylketonuria(PKU)

Phenylalanine hydroxylase

Phenyalanine at toxic level

spatic movements, eczema, feeding difficulties, musty odor

high serum phenylalanine and low serum tyrosine (blue ferric chloride test)

Tryosinemia I

fumarylacetoacetase

tyrosine

cirrhosis & renal damage(fanconi syndrome)

high serum/urine tyrosine levels, high serum methionine

diet high tyrosine= excretees PHPLA

diet low tyrosine= exctres PHPPA

Tyrosinemia II

tyrosine aminotransferase

tyrosine

corneal ulcers/keratitis, painful skin lession

high tyrosine levels & highly refractive tyrosine crystals in urine

Tyrosinemia III

4-hydroxyphenyl-pyruvate dioxygenase

PHPLA

Mental Deficiency, seizures, loss of balance/coordination

high tyrosine levels

Alkaptonuria

homogentisic acid oxidase

homegentisic acid

depositis in skin and tissues

high homogentisic acid in serum/urine and urine is black

Homocystinuria

CBS(cystathionine beta synthase)

Methionine and homocystine

ocular and skeletal abnormalities, sticky platelets

High serum/urine methionine and homocysteine

MSUD

alpha-ketoacid decarboxylase

VIL

poor appetite, vomiting, convulsions, urine has sweet smell

High ketoacids in blood/Urine and high ketones in body

Citrullinemia I

Aringosuccinate synthetase(ASS)

Nitrogen ammonia from blood stream

Citrullinemia II

mitochondrial aspartate transporter

nitrogen Ammonia from blood stream

Argininosiccinic Aciduria

aringinosuccinate lyase(ASL)

nitrogen ammonia from blood stream