Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
34 Cards in this Set
- Front
- Back
Von Gierke Disease
|
Glucose-6-Phosphatase defective
Effects liver & kidney; glycgen normal but increased amt massive enlarge of liver; failure to thrive; servere hypoglycemia, ketosis, hyperuricemia; hyperlipemia |
|
pompe disease
|
a-1,4 glucosidase (lysosomal) that continual degrades glycogen
-effects all organs- accum of glycogen in cystolic vacules -cardioresp failure (us b4 age 2) |
|
cori disease
|
defect in amylo -,6 glucosidase (debranching)
-effects muscle and liver -increased amt of glycogen, short outer branches -like type 1 (von giekre) but milder |
|
anderson disease
|
branching enzyme defected
effects liver and spleen normal amout, very long glycoen outer branches -progessive cirrohisis of liver- failure us causes death before age 2 |
|
mcardle
|
(type V)
phosphorylase defective effects liver increased amt of glycogen -like type 1 but milder course |
|
Type VI glycogen storage disease
|
phosphofructokinase defective
effects muscle, increased glycogen amt like type V (limited ability to preferom strenuous exercise) |
|
Hemolytic anemia
|
inactive G6P dehydrogenase
low NADPH and ox-damage to RBCs |
|
hereditary fructosuira
|
inactive aldose B; cant make F1P into DHAP in liver
-hypoglycemia, vomiting after frucoase |
|
essential fructosuria
|
inactive fructokinase; cant make fructose into F1P - little symptoms
|
|
galactosemia
|
inactive Gal1P uridyl transferase- cant process Gal
-Cataracts, liver failure |
|
Multiple Carboxylase deficiency
|
All carboxylases require biotin cofactor (covalently attached by enzyme holocarboxylase synthetase and removed by biotinidase)—defects in these 2 enzymes results in a lack of carboxylase activities. developmental retardation, ketoacidosis, hair loss, erythematous rash
-Treatment: therapeutic biotin supplement if defect is due to reduction of biotin affinity to holocarboxylase |
|
familial combinded hyperlipidemia
|
apoB overproduction
high LDL and VLDL high cholesterol and TG |
|
hyperTGA
|
TG over production or LPL deficiency
-high VLDL -ghigh TG |
|
acute porphyrias
|
drug induced; decrease in heme
-photosensitivity (ox damage from activated porphyrin), cornea damage, ab pain, psychiatric signs |
|
Congenital erythropoietic porphyria
|
uroporyphyrin synthase III defect
build up of porphryin, no heme -hemolysis, vit D deficiency (low Ca absorption), uroporyphyrin in urine, anemia, flourescent urine and teeth |
|
Gout
|
mutliple causes- build of of uric acid, painful joints
-treat with allopropinal- blocks activity of xathine oxidase (at hypoxanthine and xathine) |
|
SCID
|
adenosine deaminase gene defect in purine pathway - cant convert to inosine- get build of of deoxyadenosine; loss = loss of immunse system - no T or B cells (rapidly dividing cells)
|
|
treatment of ADA deficency
|
bone marrow transplantation and gene therapy; tcells in patients peripheral blood expanded in vetiro, transfected with ADA gene and put back into patient
|
|
uracil converted to (degredation)
|
beta-alanine (via 3 steps)
-uses: NADPH relaes: 1 CO2, NH4+ |
|
thyamine converted to
|
beta-aminiosobuyrate
-uses one NADHPH, relases 1 CO2 and NH3 |
|
Immuno def disease
|
purine nucleoside phosphoyrlase bild up (gant make gunanane or hypoxanthine) - purine nucleosides build up = immunodeficency
|
|
Lesh Nyan Syndome
|
HGPRT deficiney - cant salvage hypoxantyhine or guanine - purines and uric acid build up
mental retardation, self mutilation |
|
Albininsm
|
defect in tyrosinase - causes lack of melanine, vision defects photophobia
|
|
reductase kinase
|
Phosphorylates HMG Reductase; the inactivator (RK) is inactivated by +P via RKK - inhibited by glucagon and epi by activiating PPP-1
|
|
cholesterol synthesis and proteolysis
|
reducaste has sterol sensing region - when sterol high (choelsterol, bile salt, mvalone) reductase binds to ing proteins --- ubiquitiation, proteosomal degadtion of reductase
****longer term |
|
long term reg of hmgR and gene transcription
|
cholesterol binds to proein that holds SREBP (precursor for transcrip factors) in ER membrane. if enough cholesterol in body- stays in precursor cells. in absesne of cholesterol, protiens seperate and SREBP cleaves by proteases - diffueses to nucleus and activates transcription
|
|
fibrates and cholesterol treatment
|
carboxylic acid drugs use in conj with statins
increase HDL levels and reduce TGA levels |
|
apheresis
|
blood filtration, column contains aopB antibodies - binds LDL since APo is primary protein comp of LDL
|
|
What releases growth factors/ctyokines during atherosloriss
|
foam cells - accumatle to form fatty streak. GF and cytokines simulate migration of smooth muscle from media to intima- prolif produce collagen, take up lipid, becoming foam cells
|
|
Glutathione synthesis
|
glu + cystenine + glycine happens in small intestine
|
|
sulphonlyruea
|
increaes insulin
|
|
GABA synthesis
|
glutamate
-decarboxylate (B6 cofactor) inhib NT |
|
Histamine
|
histidine
-decarboxylate -degraded by MAO -acute inflammation, vasodialte, increase H+ |
|
Creatine phosphate synthesis
|
Glycine + arginine + SAM
-short term energy source in muscle = high energy bond produces ATP |