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131 Cards in this Set

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What is Kwashiokor and what are the signs? How is this different from marasmus?
Kwashiokor is protein Malabsorption leading to Edema, Anemia and Liver (fatty). Marasmus is calorie deficiency.
MEAL
Which is the only histone not in the nucleosome core?
H1
Whats the difference between nucleoside transversion and transition?
transition is btw same base and transversion is purine to pyrimidine or vice versa
What components make up purine de novo synthesis?
2 glutamine (2N), aspartate (1N), glycine (CCN), 2THF (2C), CO2 ©
What components make up pyridine de novo synthesis?
1 aspartate (CCCN) and carbamoyl phosphate (requires 2 ATP, CO2 and NH3 to donate 1 C and N to pyrimidine)
What are some exceptions to the universal genetic code?
mitochondria, archaebacteriae, mycoplasma.
What special amino acid sequence is located on tRNA other than the anti-codon region?
3' end has a CCA (5'-3') where the aa attaches
Where is the nucleophilic aa located on the growing peptide? A site or P site?
A site. The amino group attacks the ester between tRNA and 1st aa (Met) on P site.
What is a Nissl body?
rER in neurons and the site of neuronal enzymes (i.e. ChAT) and peptide neurotransmitters
which organs have the highest concentration of sER?
hepatocytes and adrenal cortex because sER responsible for drug detoxification and steroid synthesis
What is the role of the Golgi apparatus?
Distribution center for protein and lipids destined for the plasma membrane, lysosomes or secretory vesicles. Modifieds N-oligosaccharides on Asp, adds O-saccharides to serine and threonine, adds mannose-6-phosphate to proteins headed to lysosome, glycates proteoglycans, sulfates sugars in proteoglycans.
How do lysosomal proteins get sent to the lysosome?
adds mannose-6-phosphate in the Golgi apparatus.
What is I-disease?
failure of addition of mannose-6-phosphate to lysosomal enzymes. Results in coarse facial features, clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes.
What does clathrin do?
Coats membranes involved in receptor mediated endocytosis at the plasma membrane. Also guides delivery of lysosomal proteins to the lysosomes.
What drugs act on microtubules?
mebendazole/thiabendazole, taxol, griseofulvin, vincristie/vinblastine, colchicine
What is the difference between osteogenesis imperfecta and Ehlers Danlos?
Ehlers Danlos have defective collagen crosslinking whereas OI has defective procollagen formation (forming triple helix)
What are the main sx of osteogenesis imperfecta?
Sclera blue, Hearing loss, Teeth fucked up, Brittle bone disease,
SHiTy Bones
What are the main sx of Ehlers Danlos?
bruises easily, joint hypermobility, skin hyperextensible
Ehlers Danlos BJS
What does GFAP stain for?
neuroglia
What part of the cell does it occur? a) glycolysis b) fatty acid oxidation c) acetyl CoA-production d)fatty acid synthesis e) HMP shunt f) Krebs cycle g) steroid synthesis h) protein synthesis i) gluconeogenesis j) urea cycle k) heme synthesis
mitochondria: b,c, f. cytosol: a, d, e, g, h. both: i, j, k
What is the mnemonic for the substrates of glycolysis
Gorgeous Girls Fuck Fine Gentleman But Prevent Penile Pooper Penetration
What is the mnemonic for the substrates of CAC?
Can I Keep Selling Sex For Money Officer?
What is the mnemonic for the substrates of the Urea Cycle?
Ordinarily Careless Crappers Are Also Frivulous About Urination
What are the Key Irreversible steps in glycolysis, and the CAC?
Substrates: Gorgeous Fine Asses (AcetylCoA), Keep. Enzymes: Her Pussy Clean n Komfy
What is the difference between NADPH and NADH?
NAD+ is used in catabolic processes and NADPH is used for anabolic processes (steroid and fatty acid synthesis, glutathione reduction in RBC)
What are the regulatory steps in glycolysis?
Steps 1 (glucose-->g6p), 3 (f6p-->f1,6bp) and 8 (PEP-->pyruvate) and 9 (pyruvate to acetyl CoA)
What is the main role of the glucose alanine cylce?
To move nitrogen from muscles into liver for waste
What does pyruvate dehydrogenase deficiency cause?
Build up of lactate and alanine causing lactic acidosis leading to neurological deficits.
What are the main parts of your body that uses anaerobic glycolysis
RBCs, leukocytes, kidney medulla, lens, testes and cornea.
What is the role of the Cori cycle?
Allows muscle to work anaerobically (but shifts metabolic burden to the liver)
What are the 3 types of oxphos inhibitors?
electron transport inhibitors, uncoupling agents and ATPase inhibitors
What cofactors are needed for pyruvate dehydrogenase and a-ketoglutarate dehydrogenase?
NAD+, CoA, pyrophosphate, FAD, lipoic acid
What are the irreversible enzymes of gluconeogenesis?
pyruvate carboxylase (mitochondria), PEP carboxykinase (cyt), fructose-,1,6-bisphosphatase (cyt), glucose-6-phosphatase (ER)
Pathway Produces Fresh Glucose
Where does gluconeogenesis occur?
kidney, LIVER, intestinal epithelium
Where does the HMP shunt occur?
Sites of fatty acid or steroid synthesis-mammary glands, liver, adrenal cortex
How many NADPH does the HMP shunt make?
2 per glucose-6-phosphate
What are the main products of HMP shunt?
ribose-5-phosphate, G3P, F6P, and NADPH
What are Heinz bodies?
precipitated Hemoglobin with RBCs of G6PD deficient pts
What is the mode of inheritence of G6PD deficient pts?
X-linked.
How does NADPH act as a reducing agent?
reduces oxidized glutathione so that it can go and reduce peroxides and other free radicals.
Why does a defect in aldolase B cause more severe symptoms than a deficiency in fructokinase?
aldolase B does the second step of "fructolysis" so there is an accumulation of F1P which deplets stores of phosphate which should have been used for glycogenolysis
How does galactose enter glycolysis?
phosphoylation to galactose-1-P then uridyl transferase to glucose-1-P (UDP-glucose gets converted to glucose-1-P)
Why are deficiencies in galactose metabolizing enzymes bad?
accumulation of galactitol, a toxic byproduct of an alternative metabolic pathway of galactose.
Why should galactokinase deficient pts avoid lactose?
Lactose contains glucose and galactose.
Where is lactase located?
In the brush border.
In what form do intestines, muscle and other tissues deliver excess nitrogen to the liver and kidney for disposal?
muscle (to liver)-alanine, intestine (to liver)-NH3, other tissues(to kidney)-glutamine
What can Trp be used to make?
serotonin, melatonin, niacin-->NAD+ and NADP+
What can Arg be used to make?
creatine, urea, nitric oxide
Where does melanin come from?
Dopa which comes from Phe
What can Phe be used to make?
Tyr(-->thyroxine)-->dopa (-->melanin)-->dopamine-->NE-->Epi
Pts w/ phenylketonuria have what deficiencies?
Inadequate phenylalanine hydroxylase or tetrahydrobiopterin cofactor leading to buildup of phenylalanine and not enough tyrosine
What problem do you suspect in a pt w/ black urine?
homogentistic acid oxidase deficiency leading to inability to degrade tyrosine efficiently. The black color comes from alkapton bodies.
A patient with bleached skin has a deficieny in what?
tyrosinase or tyrosine transporters leading to decreased melanin production.
When would you observe lens sublaxation?
Homocystinuria
What defects are there in homocystinuria?
cystathionine synthase, decreased affinity for vit B6, methionine synthase deficiency
What should you suspect w/ cystine kidney stones?
cystinuria -defect of renal tubular transport of COLA (cystine, ornithine, lysine, arginine)
If a kid has atherosclerosis what should you suspect?
homocystinuria
How is ADA deficiency related to severe combined immunodeficiency?
ADA converts adenosine to inosine. Deficiency of this causes an excess of ATP and dATP leading to feedback inhibition of other nucleotides by ribonucleotide reductase. This inhibits DNA synthesis of lymphocytes (T and B)
What is defective in Lesch-Nyhan syndrome? Mode of inheritance?
HGPRTase. X-linked recessive
What cells don't need insulin for glucose uptake?
brain, RBC, intestine, cornea, kidney, liver
BRICK L
Where are the location of GLUT1,2,4?
GLUT1=RBC, brain. GLUT2=beta-islet cells, liver, kidney. GLUT4=adipose tissue, skeletal muscle…insulin responsive cells
Does insulin increase or decrease Na retention?
increase Na.
On which organ does glucagon act?
Liver…
What molecules regulate glycogen synthase and glycogen phosphorylase activity?
epinephrine, insulin, AMP, ATP, glucagon, glucose
Is glycogen synthase activated or deactivated when it's phosphorylated?
activated when dephosphorylated.
Is glycogen phosphorylase activated or deactivated when it's phosphorylated?
activated when phosphorylated.
How does branching enzyme work?
takes oligosaccharide and hydrolyzes a-1,4 glycosidic bond and makes a a-1,6 bond internally.
How does debranching enzyme work?
takes an oligo and cleaves a-1,4 bond closest to branching point and makes a a-1,4 glycosidic bond at the end of a chain. the remaining glucose bound by a1,6 is cleaved and released.
Which glycogen storage disease has effects mostly seen in the liver?
von Gierke's
Which glycogen storage disease has effects mostly seen in the heart?
Pompe's
Pompe's pumps
Which glycogen storage disorder shows severe muscle cramps and myoglobinuria w/ exercise?
McArdle's
Which enzyme is deficient in glycogen storage disorders I,II,III, V?
glucose-6-phosphate, lysosomal a-1,4-glucosidase, debranching enzyme (a-1,6-glucosidase), skeletal muscle glycogen phosphorylase.
Good Luck Distribution Sugars
What are the two X-linked recessive lysosomal storage diseases?
Fabry's and Hunter's
What is the deficient enzyme and accumulated substrate of Tay-Sach's?
hexoaminidase A and GM2 ganglioside
this disease puts a "HEX on a GANG on Jews"
What is the deficient enzyme and accumulated substrate of Neimann-Picks?
Sphingomyelinase and sphingomyelin
NO MAN PICKS (Neumann Picks) his nose w/ his spinger
Which lysosomal storage disorders are characterized by hepatosplenomegaly?
Neimann-Picks, Gaucher, Hurlers
Pick Gouge and Hurl
Which disease is considered a form of Hurler's syndrome? Which is worse? How is it different?
Hunter's. Hunter's is more mild. No corneal clouding + aggressive behavior
What lysosomal storage disorder is characterized by cherry red spots on the macula?
Neimann-Pick
Picking Cherrys
Which disease is characterized by ataxia and dementia?
Metachromatic leukodystrophy due to deficient arylsulfatase A leading to accumulated cerebroside sulfate
The ARYans (arylsulfatase) are WHITE (leukodystrophy) and are stupid (dementia) and you wanna break their legs (ataxia). Maybe they have something wrong in their cerebrum (cerebroside)?
Which lysosomal storage disorders is characterized by aseptic necrosis of the femur and bone crises?
Gaucher's
(G)AUCH!! that hurts
What is the defective enzyme and accumulated substrate in the mucopolysaccharidoses?
Hunter's: iduronate sulfatase, Hurler's iduronidase
alphabetical order
What lysosomal storage disorder is characterized by perpheral neuropathy, developmental retardation and optic atrophy?
Krabbe's
Think "Crab's are small, can't see well and can't feel w their pinchers"
Which two lysosomal storage disorders are characterized by defective galactsidases?
alpha-galactosidase: Fabry's. beta-galactosidase: Krabbe's
alphabetical order
How does the body make FA from glucose?
Glucose is metabolized in GLYCOLYSIS to pyruvate in the cytoplasm. The pyruvate is made into OAA and ACETYL-COA in the liver. The acetyl CoA+OAA makes citrate (CAC) then shipped out of the mitochondria using the Citrate shuttle. The citrate is then converted to acetylCoA then to malonyl CoA and incorporated into FAs
How does the body break down fatty acids?
Fatty acids are made into acyl-CoA which is then transferred to carnitine to make acyl carnitine. This is shuttled into the mitochondrion using the carnitine shuttle. In the mitochondria the acyl carnitine is turned back into acylCoA which undergoes beta oxidation.
What are ketone bodies for?
ketone bodies are generated from acetylCoA that comes from fatty acids during times of fasting (no glucose so no glycolysis). The ketone bodies are hen taken to brain and muscle and turned back into acetyl CoA which goes into CAC for more energy
What are the essential fattty acids? Why?
linoeic and linolenic acids. They are used to make arachadonic acid which is important for eicosanoid synthesis.
How do you treat methemoglobin? What is methemoglobin?
treat w/ METHylene blue. Methemoglobin is oxidized Fe in heme
What is the difference between methemoglobin and carboxyhemoglobin?
Methemoglobin is oxidized Fe in the heme and carboxyhemoglobin is CO where O2 is usually bound.
How does CO binding to hemoglobin differ from CO2?
CO2 is bound in the globin chain on the N terminus which favors the taut conformation whereas CO binding is at the heme where O2 is normally bound.
What are the main sx of porphyrias?
painful abdomen, pink urine, polyneuropathy, psych disturbances and precipitation by drugs
5Ps
What steps of heme synthesis does Pb disrupt?
ALA synthetase and ALA dehydrase-the 1st two steps.
What steps do acute intermittent porphyria and porphyria cutanea tarda have deficiencies in?
acute intermitent blocks an early step of heme synthesis…so look for the word synthase in the enzyme (hydroxymethylbilane synthase) whereas tarda (aka chronic porphyria) blocks a later step so look for the word decarboxylase in the enzyme (uroporphyrinogen synthase).
What porphyria do you see tea-colored urine?
porphyria cutanea tarda
When does your body form urobilinogen?
After the heme has been recovered from dead RBCs and excreted as conjugated bile…some of this conjugated bile is converted to urobilinogen by intestinal bacteria and taken into blood where it is excrted in the urine.
What is the difference in phenotype of Prader Willi and Angelmann's Syndrome
Prader Willi pts are Retarded, Fat, Small Testes, and Hypotonic while Angelman's are also Retarded but are also Ataxic, Laugh inapprorpriately, and have Saizures
What is the general onset of age for autosomal dominant and recessive diseases?
recessive is in childhood while dominant is in adulthood.
What are the main features of APKD?
Chromosome 16. MV proplapse, Liver often affected, Bilateral/Berry aneurysms
MLB. 16 letters in POLYCYSTIC KIDNEY
What are the main features of Marfan's syndrome?
tall, arachnodactyly, pectus excavatum, hyperextensive joints, ocular subluxation, dissecting aortic aneurysms
Marfan=Martian
What are the main features of NF1?
Café-au-Lait spots, axillary/inguinal freckling, Fibroma, Eye (Lisch nodules), Skeletal (scoliosis), Pedigree/Positive family hx/Pheochromocytoma, Optic Gliomas, Tumor Susceptibility.
CAFÉ SPOTS
What chromosome is NF1 on? NF2?
17. 22
17 letters in neurofibromatosis. NF2=22
What are the main features of NF2?
acoustic neuromas and juvenile cataracts.
How do pts w/ tuberous sclerosis present as?
Zits (sebaceum adenoma), Ash Leaf Spots, Cardiac rhabdomyoma, Hamartomas (cortical and retinal), Seizures, Mental retardation, Cysts (renal)
ZACH Sweeney Makes Chemicals
What are the main features of Von-Hippel Lindau syndrome?
Hemangioblastomas, Increased renal cell carcinoma, Pheochromocytoma, Port-wine stains, Eye disturbances, Liver/pancreas/kidney cysts.
HIPPEL
What chromosome is VHL on?
3
3 words in VHL
What neurotransmitters are decreased in Huntington's? Where? Which chromosome?
ACh and GABA reduced in caudate and putamn. Due to to gene on chromosome 4.
HAG and Hunt 4 a Date and Puta.
What chromosome is FAP on?
5
5 letters in polyp
What is the main defect in achondroplasia and what does it result in?
mutated FGFR3 resulting in abnormal cartilage formation. This results in dwarfism w/ head and trunk of normal size but short proximal limbs.
What are the main autosomal recessive diseases?
CF, sickle cell anemia, thalassemia, alpha-antitrypsin deficiency, sphingolipidoses (exc Fabry's), hemochromatosis, albinism, glycogen storage dz, infant PKD, mucopolysacchardioses, phenylketonuria
Come STASH A GIMP
What chromosome is CFTR on?
7 at Phe 508
What gene is defective in cystic fibrosis? What chromosome is it on?
CFTR on chrom 7
What does CFTR normally do?
secretes Cl in lungs and GI and reabsorbs Cl on skin.
What types of infections are cystic fibrosis pts susceptible to?
Pseudomonas and S. aureus
How do you treat CF?
N-acetylcysteine
Where does the mucus in CFTR collect?
Pancrease, lungs and liver
What are the X-linked recessive disorders?
Bruton's, Wiskott-Aldrich, Fragile X, G6PD deficiency, Ocular albinism, Lesch-Nyhans, Duschenne's MD, Hemophilia A and B, Fabry's and Hunter's.
Be Wise Fool's GOLD Heeds False Hope
How do you dx Duschenne's?
inc CPK and muscle biopsy
What are 5 main features of Duscenne's?
ascending from the pelvis, dystrophin gene mutated, pseudohypertrophy, cardiac myopathy, respiratory difficulty.
What are the two most common causes of mental retardation?
Downs then Fragile X
What gene is affected in Fragile X?
FMR1
What are the most common trinucleotide repeats?
Huntington's, myotonic dystrophy, Friedrich's ataxia, Fragile X
TRY HUNTING for MY FRIED X (eggs).
What disease is associated w/ macroorchidism?
Fragile X
What chromosomes are associated with the three autosomal trisomies?
Downs-21, Edwards-18, Patau-13
Drinking age-21yo, Election age-18yo, Puberty-13yo.
What protein level changes in Down syndrome?
increase in HCG and decrease in AFP
What severe diseases is Down syndrome associated w/?
ALL, ASD, atresia (duodenal), AD (>35yo)
4A
What should you consider if a pt has both epicanthal folds and microcepaly in a mentally retarded pt?
epicanthal folds - down's. microcephaly - Patau. Both - Cri-du-Chat.
What is the genetic abnormality in pts w/ cri-du-chat?
short arm of 5.
What sx do you see in DiGeorge/Valocardiofacial syndrome?
Cleft palate, abnormal facies, thymic aplasia (T-cell deficiency), cardiac defects, hypocalcemia (secondary to parathyroid aplasia). microdelection at chromosome 22q11
CATCH-22
What is the most common cause of congenital malformation in the US?
fetal alcohol syndrome.
During what time is a fetus most susceptible to fetal alcohol syndrome?
During organogenesis (wks 3-8)
What organs are most affected in fetal alcohol syndrome?
brain (microcephaly), heart and lung (fistulas), musculoskeletal (limb disolcations).