Metabolic Diseases

Front 1

Von Gierke Disease

Back 1

Glucose-6-Phosphatase defective
Effects liver & kidney; glycgen normal but increased amt
massive enlarge of liver; failure to thrive; servere hypoglycemia, ketosis, hyperuricemia; hyperlipemia

Front 2

pompe disease

Back 2

a-1,4 glucosidase (lysosomal) that continual degrades glycogen
-effects all organs- accum of glycogen in cystolic vacules
-cardioresp failure (us b4 age 2)

Front 3

cori disease

Back 3

defect in amylo -,6 glucosidase (debranching)
-effects muscle and liver
-increased amt of glycogen, short outer branches
-like type 1 (von giekre) but milder

Front 4

anderson disease

Back 4

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

Front 5

mcardle

Back 5

(type V)
phosphorylase defective
effects liver
increased amt of glycogen
-like type 1 but milder course

Front 6

Type VI glycogen storage disease

Back 6

phosphofructokinase defective
effects muscle, increased glycogen amt
like type V (limited ability to preferom strenuous exercise)

Front 7

Hemolytic anemia

Back 7

inactive G6P dehydrogenase
low NADPH and ox-damage to RBCs

Front 8

hereditary fructosuira

Back 8

inactive aldose B; cant make F1P into DHAP in liver
-hypoglycemia, vomiting after frucoase

Front 9

essential fructosuria

Back 9

inactive fructokinase; cant make fructose into F1P - little symptoms

Front 10

galactosemia

Back 10

inactive Gal1P uridyl transferase- cant process Gal
-Cataracts, liver failure

Front 11

Multiple Carboxylase deficiency

Back 11

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

Front 12

familial combinded hyperlipidemia

Back 12

apoB overproduction
high LDL and VLDL
high cholesterol and TG

Front 13

hyperTGA

Back 13

TG over production or LPL deficiency
-high VLDL
-ghigh TG

Front 14

acute porphyrias

Back 14

drug induced; decrease in heme
-photosensitivity (ox damage from activated porphyrin), cornea damage, ab pain, psychiatric signs

Front 15

Congenital erythropoietic porphyria

Back 15

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

Front 16

Gout

Back 16

mutliple causes- build of of uric acid, painful joints
-treat with allopropinal- blocks activity of xathine oxidase (at hypoxanthine and xathine)

Front 17

SCID

Back 17

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)

Front 18

treatment of ADA deficency

Back 18

bone marrow transplantation and gene therapy; tcells in patients peripheral blood expanded in vetiro, transfected with ADA gene and put back into patient

Front 19

uracil converted to (degredation)

Back 19

beta-alanine (via 3 steps)
-uses: NADPH
relaes: 1 CO2, NH4+

Front 20

thyamine converted to

Back 20

beta-aminiosobuyrate
-uses one NADHPH, relases 1 CO2 and NH3

Front 21

Immuno def disease

Back 21

purine nucleoside phosphoyrlase bild up (gant make gunanane or hypoxanthine) - purine nucleosides build up = immunodeficency

Front 22

Lesh Nyan Syndome

Back 22

HGPRT deficiney - cant salvage hypoxantyhine or guanine - purines and uric acid build up
mental retardation, self mutilation

Front 23

Albininsm

Back 23

defect in tyrosinase - causes lack of melanine, vision defects photophobia

Front 24

reductase kinase

Back 24

Phosphorylates HMG Reductase; the inactivator (RK) is inactivated by +P via RKK - inhibited by glucagon and epi by activiating PPP-1

Front 25

cholesterol synthesis and proteolysis

Back 25

reducaste has sterol sensing region - when sterol high (choelsterol, bile salt, mvalone) reductase binds to ing proteins --- ubiquitiation, proteosomal degadtion of reductase
****longer term

Front 26

long term reg of hmgR and gene transcription

Back 26

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

Front 27

fibrates and cholesterol treatment

Back 27

carboxylic acid drugs use in conj with statins
increase HDL levels and reduce TGA levels

Front 28

apheresis

Back 28

blood filtration, column contains aopB antibodies - binds LDL since APo is primary protein comp of LDL

Front 29

What releases growth factors/ctyokines during atherosloriss

Back 29

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

Front 30

Glutathione synthesis

Back 30

glu + cystenine + glycine happens in small intestine

Front 31

sulphonlyruea

Back 31

increaes insulin

Front 32

GABA synthesis

Back 32

glutamate
-decarboxylate (B6 cofactor)
inhib NT

Front 33

Histamine

Back 33

histidine
-decarboxylate
-degraded by MAO
-acute inflammation, vasodialte, increase H+

Front 34

Creatine phosphate synthesis

Back 34

Glycine + arginine + SAM
-short term energy source in muscle = high energy bond produces ATP