Term
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Definition
Vitamin C Deficiency (needed for hydroxylation of proline and lysine in collagen -- decreased tensile strength)
Hemorrages in skin, bleeding gums, bone pain, hemarthroses, perifollicular hemorrhage, glossitis |
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Term
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Definition
Tay Sachs
(Hereditary defect in lysosomal enzymes that degrade sphingolipids) |
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Term
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Definition
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Term
| Mutation in Sickle Cell anemia |
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Definition
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Term
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Definition
| Peroxidase accumulates in RBCs leading to denaturation of heboglobin Form Heinz bodies |
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Term
COenzymes that are vitamin derivatives:
NAD, Pyridoxal phosphate, Thiamine Phosphate, Tetrahydrofolate |
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Definition
NAD: oxidation reduction reactions
Pyridoxal phosphate: transamination rxns and amino acid decarboxylation rxns
Thiamine phosphatase: oxadative decarboxylation of alpha-keto acids and for transketolase in the pentose phosphate pathway
THF: one carbon tranfer rxns |
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Term
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Definition
Mg, Zn, Cu, Fe, Se
help orient substrates or act as electron carriers |
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Term
| Irreversible Enzyme inhibitors |
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Definition
| heavy metals, aspirin, fluorouracil, organophosphates |
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Term
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Definition
| Porphyria and sideroblastic anemia |
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Term
| Symptoms of carbon monoxide poisioning |
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Definition
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Term
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Definition
Product of erythrocyte glycolysis (mutase)
Decreases the O2 affinity of Hb allowing release to tissues
Increased at increased altitudes |
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Term
| Things that cause right shift of O2 binding curve (decreased O2 affinity) |
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Definition
| Increased 2,3 BPG, acidotic state (tissues are acidic), high alt (via 2,3 BPG), increased temp (fever) |
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Term
| Things that cause a left shift in O2 binding curve (increased affinity) |
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Definition
| Decreased 2,3 BPG, CO, methemoglobin (Fe3+), hypothermia, alkalosis, HbF |
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Term
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Definition
| Major vehicle of CO2 in blood |
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Term
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Definition
| Viral hepatitis (ALT>AST) |
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Term
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Definition
Alcoholic Hepatitis (AST>ALT) (wASTed)
MI (AST only) |
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Term
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Definition
| Osteogenic bone disease (fracture repair, Paget's, metastatic prostate cancer), obstructive liver disease) |
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Term
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Definition
| Acute pancreatitis, mumps |
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Term
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Definition
| MI (CK-MB), Duchenne MD (CK-MM) |
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Term
| Elevated Gamma-Glutamyl transferase (GGT) |
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Definition
| Obstructive liver disease, increased in alcoholics (Gotta Get That beer) |
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Term
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Definition
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Term
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Definition
| Acute pancreatitis (more specific that amylase) |
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Term
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Definition
| Treatment for sickle cell that increases synthesis of HbF and therefore reduces sickling! |
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Term
| Complication of sickle cell trait |
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Definition
| Renal papillary necrosis: O2 tension low enough there to induce sickling |
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Term
| Symptoms and complications of sickle cell disease |
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Definition
hemolytic anemia,
multiorgan pain,
autosplenectomy - suceptible to capsulated organisms,
crisis,
osteomyelitis (Salmonella)
Strep pneumo sepsis |
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Term
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Definition
Mutation of Glu to Lys
Mild chronic anemia |
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Term
| Hereditary Methemoglobinemia |
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Definition
Aut dom
Slate-gray cyanosis in early infancy |
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Term
| Causes of acquired methomoglobinemia |
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Definition
nitrate/nitrite compounds
sulfonamides
analine dyes
(cyanosis, HA, dizziness) |
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Term
|
Definition
chromosome 11 mutation
Produce only HbF and HbA2 (no HbA)
Bone distortions, splenomegaly, hemosiderosis -- fatal |
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Term
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Definition
| mild anemia with slightly decreased HbA |
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Term
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Definition
| Causes cataracts, neuropathy and retinopathy in diabetes |
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Term
| Factors that regulate phosphlipase A2 |
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Definition
Ca2+ activates
Corticosteroids inactivate |
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Term
| Branched chain amino acids increased in maple syrup urine disease |
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Definition
Isoleucine
Leucine
Valine (I Love Vermont maple syrup) |
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Term
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Definition
| Phenylalanine accumulates and tyrosine must be supplied |
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Term
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Definition
Mild (1 or 2 gene deletions) normal HB electrophoresis with progressive microcytic anemia
If all four genes deleted - intrauterine death |
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Term
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Definition
Antibodies against basement membrane of pulmonary and GBM capillaries (those basement membranes look like some good pastures)
Basement Membranes = type IV collagen |
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Term
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Definition
| Enzyme that helps form crosslinks to increase tensile strength of collagen |
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Term
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Definition
Collagen Defect - alpha chain mutation (mostly effects type I and II)
Loose joints, hyperelastic joints, disecting aortic aneurysms, colon rupture |
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Term
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Definition
Type I collagen deficiency
Fractures, slow wound healing, hearing loss and BLUE SCLERA |
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Term
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Definition
X linked dominant Type IV Collagen Defect
Nephritis, hearing loss, ocular defects |
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Term
| Drugs that affect Na/K/ATPase |
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Definition
Digitalis and Ouabain inhibit
Albuterol enhances |
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Term
| Glucose Transporters (GLUTs) |
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Definition
| Na+ independent transporters that transport glucose down concentration gradient by cycling between conformations |
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Term
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Definition
Most cells except kidney and small intestine
Glucose and galactose but not fructose
Basal glucose uptake |
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Term
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Definition
Glucosel Galactose and fructose
Hepatocytes (high blood glucose levels), pancreatic B cells (acts as glucose sensor), epithelial cells of intestine and kidney tubules (exports into blood) |
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Term
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Definition
Neurons, placenta, testes
Basal glucose and galactose |
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Term
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Definition
Skeletal and cardiac muscle, adipocytes
Uptake of glucose in response to insulin stimulation (induces translocation of GLUT4 from golgi) |
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Term
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Definition
sm intestine, sperm, kidney, brain, muscle, adipocytes
FRUCTOSE only |
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Term
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Definition
ER membrane in hepatocytes
tansports glucose produced in ER by G6P to cytosol for release by GLUT2 |
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Term
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Definition
NA/K symporter
epithelial cells of sm intestine and kidney tubules
Cotransports glucose or galactose (fructose passive transport) and Na in same direction; allows uptake against conc gradient |
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Term
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Definition
Defect in CFTR CL- ATPase in lungs, pancreas, intestines, skin
Increased salt in sweat and increased viscosity of mucus
FTT, malabsorption, recurrent pseudomonas infections |
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Term
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Definition
Defect in carrier protein for reabsorption of dibasic amino acids from renal tubules
Formation of cystine kidney stones |
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Term
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Definition
Aut recessive defect in carrier protein for neutral aas in intestine and renal tubule
Diarrhea, Dermatitis, Dementia |
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Term
| Familial Hypercholesterolemia |
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Definition
Autosomal dominant disease with lack of functional receptors for LDL
Premature atherosclerosis and MI and stroke and early age |
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Term
| Signal molecules that use nuclear or cytosolic receptors |
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Definition
| Steroid hormones, thyroxine, retinoic acid |
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Term
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Definition
Stimulates adenylate cyclase (inc cAMP)
Coupled receptors: Dopamine (D1), epinephrine (B1 and B2), histamine (H2), glucagon, vasopressin (V2)
Shannon (s) is a Dope (dopamine) who Better Eat (Epi B1 and 2) Her two(H2) Good (glucagon) Vegetables (V2) |
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Term
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Definition
Inhibits AC (dec cAMP)
Dopamine (D2), Epinephrine (a2)
I(Gi) Don't (D2) Eat (epi) A tuna (a2) |
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Term
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Definition
Stimulates phospholipase C (inc IP3 and DAG)
AII, epi (a1), oxytosin, vasopressin (V1) |
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Term
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Definition
Stimulates cGMP phosphodiesterase (inc cGMP)
Rhodopsin (light sensitive) |
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Term
| Effects of increased cAMP (via epi, ACTH, etc) |
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Definition
- Hydrolysis of triglycerides
- Adrenal Hormone secretion
- Increased cardiac contraction
- Secretion of H2O and electrlytes from intestine (VIP and epi)
- Resorption of water from kidney
- Inc glycogen degredation and glucose synthesis in liver
- Inhibition of platelet aggregation (prostacyclin)
- Inc glycogen degradation in skeletal muscle
- Relaxation of bronchial sm mucle and contraction of arterioles
- Thyroid synth and secretion of thyroxine (TSH)
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Term
| Cholera toxin and EHEC toxin |
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Definition
| Permanently activate Gs -- inc cAMP -- secretory diarrhea |
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Term
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Definition
| inactivated Gi -- inc cAMP -- inc mucus secretion in resp tract -- whooping cough |
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Term
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Definition
inappropriate stimulation of TSH receptors by IgG autoantibodies
Thyromegaly, exopthalmos, hyperthyroid signs (weight loss, fatigue, heat intol, diarrhea, hand tremors)
Type II hypersensitivity |
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Term
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Definition
| Low GTPase activity--constitutively activated -- cancer |
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Term
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Definition
alpha 1 adrenegic agonist (Gq)
vasoconstriction |
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Term
| Albuteral and terbutaline |
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Definition
Alpha 2 agonists
Sm muscle relaxation |
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Term
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Definition
AII receptor blocker
decreases BP |
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Term
| Chlorpormazine, Haloperidol |
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Definition
block D2 receptors
antipsychotics |
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Term
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Definition
Linoleic and linolenic
Deficiency -- scaly dermatitis, poor wound healing and hair loss |
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Term
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Definition
In adults: alcohol most common
Kids: CF most common
Causes maldigestion of fats and proteins due to decreased lipases and trypsin |
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Term
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Definition
Causes defective micellarization of fats
Causes: cirrhosis, intrahepatic or extrahepatic blockage of bile, bacterial overgrowth (destruction of bile acids), ecess bile salt binding (cholestyramine) and terminal ileal disease (can't recycle) |
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Term
| Celiac disease, Crohn's disease |
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Definition
Cause loss of small intestinal surface
Malabsorbtion of fats, proteins and carbs |
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Term
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Definition
Def: Night blindness, dry skin
Excess: arthralgias, fatigue, HA, skin changes, sore throat, alopecia, TERATOGENIC |
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Term
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Definition
Rickets (children), osteomalacia (adults)
Vitamin D increased absorption of Ca and PO4 via the intestine
Excess: hypercalcemia/calciuria, loss of appetite, stupor (sarcoidosis) |
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Term
| Vitamin K def (fat soluble K, A, D, E) |
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Definition
| Hemorrhagic disease with ecchymoses and GI bleeding |
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Term
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Definition
deficiency in total calories and protein
Growth retardation, extreme muscle wasting due to breakdown of muscle protein for energy |
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Term
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Definition
Inadequate protein intake
Pitting edema, ascites, enlarged fatty liver (decreased apolipoproteins), anemia, diarrhea, dec cellular immunity) |
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Term
| Thiamine (vit B1) Deficiency |
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Definition
alcoholics and the malnourished; precipitated by giving glucose solution (uses up all the thiamine in pyruvate dehydrogenase rxn)
Wernike-Korsakoff syndrome: confusion, ataxia, nystagmus, opthalmoplegia, amnesia
Peripheral Neuropathy (dry beriberi)
Congestive cardiomyopathy (wet beriberi) |
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Term
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Definition
| Corneal neovascularization, glossitis, cheilosis, angular stomatitis |
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Term
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Definition
| Pellagra with diarrhea, dermatitis, dementia |
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Term
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Definition
| Sideroblastic anemia, peripheral neuropathy, convulsions |
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Term
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Definition
Decreased tryptophan absorption (decreased absorption of all neutral aas)
Can lead to pellagra because B3 derived from tryptophan |
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Term
| Vitamin B5 (pantothenate) |
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Definition
Component of CoA and faty acid synthase
Deficiency uncommon (dermatitis, enteritis, allopecia, adrenal insufficiency) |
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Term
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Definition
serotonin increased -- diarrhea and flushing
leads to increased tryptophan metobolism and therefore pellagra (B3 def) |
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Term
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Definition
| Decreases vitamin B6 which is neccesary to make vit B3 so get pellagra and B6 def |
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Term
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Definition
Inducible by INH and oral contraceptives
Convulsions, hyperirritability, peripheral neuropathy |
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Term
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Definition
Megaloblastic anemia, neutropenia, glossitis, SCD, dementia,accumulation of homocystein and methylmalonic acid
Causes: pernicious anemia, malabsoprtion, vegan, bacterial overgrowth, pancreatitis (need to cleave from R factor), Crohns (absence of terminal ileum |
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Term
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Definition
Normally converted to THF important for DNA synth
Megaloblastic anemia without neuro sx
Alcoholism and pregnancy, phenytoin, sulfonamides, MTX |
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Term
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Definition
biotin provided by bacteria in intestine
deficiency caused by antibiotic use or excessive ingestion of raw eggs (avidin binds biotin)--alopecia, dermatitis, enteritis, glossitis, lactic acidosis |
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Term
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Definition
Hypo: Tetany, osteoporosis;
Hyper: Renal calculi, metastatic calcification, polyuria |
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Term
| Hypo and Hyper-phosphatemia |
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Definition
Hypo: muscle weakness, rhabdomylosis and hemolytic anemia due to decreased ATP
Hyper: Hypocalcemia, hypovitaminosis D (inhibits 1 alpha hydroxylase) |
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Term
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Definition
| Hypo and Hyper: Mental status abnormalities, convulsions |
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Term
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Definition
Hypo: muscle weakness, polyuria
Hyper: Heart stops in diastole |
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Term
| Hypo and Hyper-magnesemia |
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Definition
Hypo: hypocalcemia with tetany (due to decreases PTH), tachycardia
Hyper: Neuromuscular depression, bradycardia |
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Term
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Definition
| Microcytic anemia, low serum ferritin, low serum iron, high total iron binding capacity (inc transferrin), Plummer-vinson syndrome (esophageal webs, glossitis, spoon nails, achlorhydria), excessive fatigue |
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Term
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Definition
| Poor wound healing, dysgeusia (can't taste), anosmia, perioral rash, hypogonadism, growth retardation |
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Term
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Definition
| Microcytic anemia, aortic dissection, poor wound healing |
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Term
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Definition
| Goiter (relative or abs def of thyroid hormones) |
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Term
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Definition
| Imparied glucose tolerance, peripheral neuropathy |
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Term
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Definition
| Muscle pain and weakness, cardiomyopathy |
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Term
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Definition
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Term
| Pyruvate Kinase Definciency |
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Definition
AR
Inadequate ATP for maintaining ion pumps in RBC membrane --loss of H2O; RBCs destroyed -- inc billirubin
Inc 2,3-BPG (dec O2 affinity)
Hemolytic anemia and jaundice at birth; |
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Term
| Pyruvate dehydrogenase deficiency |
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Definition
AR
Inc pyruvate, alanine, lactic acid; Dec Acetyl CoA therefore dec ATP
Lactic acidosis, neurolgoic defects, myopathy, early death |
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Term
|
Definition
Xlinked
Inadequate NADPH production -- antioxidant activity of glutathione in mature RBCs
Hemolytic Anemia, induced by infections, oxidant drugs dapsone, primaquine) and fava beans! |
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Term
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Definition
AR
Deficiency of GALT; Inc galactose and galactose-1-P and galacitol
Cirrhosis, mental retardation, cataracts, galactosuria; Women with disorder can still synthesize lactose in breast milk due to epimerase reaction |
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Term
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Definition
AR
Increase in galactose and galacitol
Infantile cataracts (may present as failure to track objects or develop a social smile) |
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Term
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Definition
Deficiency of aldolase B; increased fructose and fruuctose-1-p; excess fructose traps phosphorus in cells --hypophosphatemia; Dec in ATP and Inc in AMP
Clinical: toxic liver damage, renal disease; severe fasting hypoglycemia with inc uric acid due to AMP metabolism |
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Term
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Definition
| Defect in Fructokinase--accumulation of fructose in blood and urine; asymptomatic because fructose can't enter cells |
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Term
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Definition
| Prepares uterine lining for implantation and participates in maintenance of pregnancy |
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Term
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Definition
| promotes glycogenolysis and gluconeogenesis in fasting state; negative feedback relationship with ACTH |
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Term
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Definition
| Promotes sodium reabsorption and potassium and proton secretion at distal and collecting tubules |
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Term
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Definition
| Activates 18-Hydroxylase which converts corticosterone into aldosterone |
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Term
| 11-Deoxycorticosterone and corticosterone |
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Definition
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Term
|
Definition
| Secondary sex characteristics in males |
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Term
|
Definition
| Development of female secondary sex characteristics and proliferative phase of menstrual cycle |
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Term
| 21-alpha-reductase deficiency |
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Definition
| Most common type of adrenogenital syndrome; Salt wasting; Dec cortisol with inc ACTH, dec mineralocorticoids; Male with precocious puberty and females with ambiguous genetalia (increased androgen production) |
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Term
| 11-beta-hydroxylase deficiency |
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Definition
| Salt retention due to increased 11-deoxycorticosterone (mineralocorticoid); dec ortisol with inc ACTH; Hypertension, masculinization (increased androgens) |
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Term
|
Definition
| Increased production of mineralocorticoids and decreased production of 17-ketosteroids and 17-hydroxycorticoids; Hypertension, male with female genitalia, female with hypogonadism |
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Term
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Definition
| AR; lack of ApoB lipoproteins; very low cholesterol and triacylglycerol levels; Malabsorption of fat and fat soluble vitamins, spinocerebellar ataxia, retinitis pigmentosea, hemolytic anemia |
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Term
| Type I Hyperlipoproteinemia (hyperchylomicronemia) |
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Definition
| LPL deficiency of ApoCII def; inability to hydrolize chylomicrons; inc TG and cholesterol in blood; Standing chylomicron test supranate but no infranate |
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Term
| Type IIa Hyperlipoporteinemia (Familial Hypercholesterolemia) |
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Definition
| AD; Absent or decreased LDL receptor; elevated blood cholesterol; Achilles tendon xanthomas, premature coronary artery disease |
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Term
| Type IV Hyperlipoproteinemia (Familial hypertriglyceridemia) |
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Definition
| AD; Hepatic overproduction of VLDL; increased TGs in blood beginning at puberty; inc coronary artery disease and peripheral vascular disease; Standing chylomicron test: turbid infranate |
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Term
|
Definition
| AR; Phenylalanine hydroxlase Deficiency (inc phenylalanine and dec tyrosine); mental retardation, fair skin, mousy odor, vomitting; Strict diet in children and in pregnant women with PKU |
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Term
|
Definition
| Def in dihydrobiopterin reductase (cofactor for phenylalanine hydroxylase); Similar sx to classic pku but neuro sx even with dietary restrictions due to inability to metabolize tyrosine or tryptophan |
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Term
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Definition
| Def of homogentisic acid oxidase; increased homogentisatein urine turns it black! articular cartilage and sclera darken; May get debilitating arthralgias |
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Term
|
Definition
| Congenital deficiency of Tyrosinase (inability to synth melanin from tyrosine) or defective tyrosine transporters; inc risk of skin cancer |
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Term
| Maple syrup urine disease |
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Definition
| Deficiency of alpha-ketoacid dehydrogenase; defective degradation of branched aas; urine smells liek maple syrup; CNS defects, mental retardation, early death |
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Term
|
Definition
| Def of cystathione synthase or dec affinity of it, or dec homocystein methyltransferase; excess homocytein and cystein becomes essential; resembles Marfan's with mental retardation, kyphosis, lens subluxation, osteoporosis, athersclerosis |
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Term
|
Definition
| Bening unilateral tumor of adrenal cortex that secretes excess catecholamines -- HTN |
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Term
|
Definition
| Malignant unilateral childhood tumor of the adrenal medulla; excretes catecholamines -- HTN |
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Term
| Acute Intermittent Prophyria |
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Definition
| Defect in uroporphyrinogen I synthase-- inc perphobilinogen and ALA; recurrent attacks of neurologically induced abdominal pain, wine-red colored urine, attacks precipitated by drugs |
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Term
| Congenital erythropoietic porphyria |
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Definition
| Defect in Uroporphyrinogen III: inc uroporphyrinogen I; hemolytic anemia and photosensitive skin lesions, wine-red urine |
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Term
| Porphyria cutanea tarda (PCT) |
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Definition
| AD or acquired; defect in uroporphyrinogen decarboxylase -- accum of uroporphyrinogen III; Most comon porphyria in US< photosensitive skin lesions; exacerbatd by iron, alcohol, estrogens, HepC; wine-red urine |
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Term
|
Definition
| Inhibits ALA dehydratase and ferrochetalase--inc RBC protoporphyrin IX and dec heme; iron accumulates in mito--ringed sideroblasts with coarse basophilic stippling; encephalopathy with convulsions, microcytic anemia, abdominal pain, diarrhea, renal disease |
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Term
|
Definition
| Can be caused by deficiency of adenosine deaminase (ADA) -- excessive ATP and dATP which inhibits ribonucleotide reductase and prevents DNA synthesis; B and T cell deficiency -- recurrent infections |
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Term
|
Definition
| Overproduction or underexcretion of uric acid (end product of purine degredation); recurrent attacks, |
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Term
|
Definition
| Total deficiency of HGPRT (salvage enzyme for hypoxanthine and guanine) -- hyperuricemia; retardation, self-mutiltion, aggresion, hyperuricemia, gout, choreoathetosis |
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Term
|
Definition
| microtubule polymerization defect resulting in decreased phagocytosis--recurrent pyogenic infections, partial albinism (melanin transport), peripheral neuropathy |
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Term
|
Definition
| immotile cilia due to a dynein arm defect; infertility, bronchiectasis, sinusitis, situs inversus |
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Term
|
Definition
Faulty collagen synthesis (usually type III);
Hyperelastic skin, tendency to bleed, hypermobile joints (think Elastic Dancer);
Can be associated with joint dislocation, berry aneurysms, organ rupture |
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Term
|
Definition
| Brittle bone disease; Most commonly aut dom type I collagen defect; mulitple fractures, blue sclera, hearing loss, dental imperfections |
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Term
|
Definition
| Abnormal type IV collagen; progressive hereditary nephritis and deafness, ocular disturbances |
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Term
|
Definition
|
|
Term
|
Definition
| Can be caused by AAT def resulting in excessive elastase activity which breaks down elastin |
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