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Biochemistry

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Answer 50 questions in 15 minutes.
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Match each statement with the correct term.
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1. Where is glucokinase found - What are the Km and Vmax - and what induces it
Glycolysis and aerobic respiration
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Liver and beta cells of pancreas - low affinity - high Km - high capacity - high Vmax - induced by insulin
Antibiotic use or excessive ingestion of raw eggs

2. What are bite cells and when do you see them
Stored ATP - creatine phosphate - anaerobic glycolysis
Result from phagocytic removal of heinz bodies my macs - G6PD def
Sucrose = glucose + fructose - lactose = glucose + galactose
Failure to track objects or develop a social smile

3. cardiomegaly - systemic findings leading to early death - dz and enzyme

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4. What is the active form of vit D
Elastase - inhibited by alpha1 antitrypsin
NADH - NADPH - FADH2
Flank pain - hematuria - HTN - progressive renal failure
1 -25 OH2 D3 = calcitriol

5. What does vit B3 def result in
Glycolysis and aerobic respiration
Glossitis - severe = pellagra - diarrhea - dermatitis - dementia
CGG
Stored ATP - creatine phosphate - anaerobic glycolysis

6. What else can phosphoylate phosphorylase kinase
Early in life - AR - inability to synthesize lipoproteins due to def in apoB100 and B48 - intestinal biopsy shows accumulation within enterocytes due to inability to export absorbed lipid as chylomicrons - failure to thrive - steatorrhea - acanthocyt
Sucrose = glucose + fructose - lactose = glucose + galactose
ATP hyrdolysis couple to energetically unfavorable rxns
Ca/calmodulin in muscle to coordinate with muscle activity

7. What is the TX for hyper ammonemia
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Type II
Nissl body - enzyme and NTs

8. Of the four possible fates for pyruvate - which one carries amino groups to liver from muscle
Alanine
Cystine kidney stones - cystine staghorn calculi - cystine is made of two cysteines connected by disulfide bond
Gaucher's - beta glucocerebrosidase - glucocerebrosie - AR
B12 and folate

9. What is codominance and give an example
Elastase - inhibited by alpha1 antitrypsin
Cystathionine synthase def - dec affinity of cystathionine synthase for pyridoxal phosphate - homocystein methyltransferase def
DTMP
Neither of 2 alleles is dominant - blood groups

10. What regulates whether FBPase -2 or PFK-2 is active
Phenylalanine hydroxylase
Protein kinase A
Biotin
1 kind with multiple subunits

11. Describe the pathophys of the aorta in a pt with marfans - and the eyes
2pq
Cytosol - F 1 -6 BP to fructose 6 Phosphate
Cystic medial necrosis of aorta leading to aortic incompetence and dissecting aortic aneurysms - floppy mitral valve - subluxation of lenses
Alpha 1 -6 and alpha 1 -4

12. What does desmin stain for
Muscle
Asp and Glu
Foliage - small reserve in liver - eat green leaves
Stored ATP - creatine phosphate - anaerobic glycolysis

13. What makes up a nucleotide

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14. What causes patau's syndrome and What is it
5' to 3'
Creat a nick in the helix to relieave supercoils created during replication
Blood - bone marrown - amniotic fluid - placental tissue
Trisomy 13 - severe mental retardation - rocker bottom feet - micophthlamia - microcephaly - cleft lip/palate - holoprosencephaly - polydactyly - congenital heart disease - death usually within the first year

15. What happens in vit D def
5' of the incoming nucleotide
1 -25 OH2 D3 = calcitriol
Rickets in kids - bending bones - osteomalacia in adults - hypocalcemia tetany - breast milk has dec vit D (supplement in dark skinned patients)
Must be both activated and inactivated for cell cycle to progress

16. What is the trinucleotide repeat in fragile X
Methionine encode by only 1 codon (AUG)
African Americans and Asians
Creat a nick in the helix to relieave supercoils created during replication
CGG

17. What enzyme converts adenine to AMP
Nissl body - enzyme and NTs
Griseofulvin
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
APRT + PRPP

18. what gene is implicated in fragile X syndrome - and What is the mutation
FMR1 gene - methylation - associated with chromosomal breakage
By inhibiting formation of the initiation complex and cause misreading of mRNA
Uses ATP to add high energy phophate group onto substrate
RNA

19. congenital deficiency of homogentisic acid oxidase in the degradative pathway of tyrosine to fumarate leading to dark connective tissue - brown pigmented sclera - urine turns black on standing - dz and worst complication
RNA
HMP shunt
Convulsions - hyperirritability - peripheral neuropathy - deficiency inducible by INH and oral contraceptives - sideroblastic anemais
Alkaptonuria - may have debiliating arthralgias

20. What is the energy source for translocation
Degradation of TG remaining in IDL
GTP
Hydroxyurea - inhibits ribonucleotide reductase - 6 MP - blocks de novo purine synthesis - 5 FU inhibits thymidilate synthase - MTX - inhibits DHFR - Trimethroprin inhibits bacterial DHFR
Depleted for gluconeogenesis staling the TCA cycle and shunting glucose and FFA to production of ketone bodies

21. What happens in a B12 def
Macrocytic - megaloblastic anemia - hypersegmented PMNs - neurologic symptoms - (parasthesias - subacute combined degeneration) due to abnl myelin - prolonged becomes irreversible
Polyneuritis - symmetrical muscle wasting
Acetoacetate and beta hydroxybutyrate
Degredation of dietary TG in small intestine

22. What is pleiotropy and given an example
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20
Silencers
1 gene had >1 effect on an individuals phenotype - PKU causes many seemingly unrelated symptoms ranging from mental retardation to hair/skin changes
Citrate - isocitrate - alpha ketoglutarate - succinyl - CoA - succinate - fumarate - malate - oxaleoacetate

23. What is the rate limiting enzyme in cholesterol synthesis
Superoxide dismutase
Hyperlipidemia
Tropoelastin with fibrillin scafolding
HMG- CoA (HMG- CoA to mevalonate

24. What is the activated carrier for Acyl
MRNA
Oral uridine administration
Coenzyme A - lipoamide
Disease

25. characterize autosomal recessive inheritance
1/4 of offspring from 2 carrier parents are affected - often enzyme def - usually only seen in 1 generation - often more sever than AD - presents in childhood
Familial hypercholesterolemia - hyperlipidemia type IIA
Cytosol
Lacks glucose 6 phophatase

26. What converts NE to epi
Muscle
Glycogen synthase
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Phenylethamolamine N methyl transferase

27. What is anticipation and give an example
X- linked recessive
Kwashiorkor - small child with swollen belly
Severity of disease worsens or age of onset of disease is earlier in succeeding generations - huntingtons
Propionyl - CoA to methylmalonyl - CoA (3C to 4C)

28. How does insulin inhibit glycogenolysis
Conversion of NE to epi
Microtuble polymerization defect causing a dec in phagocytosis results in recurrent pyogenic infections - partial albinism - and peripheral neuropathy
Receptor tyrosine kinases - protein phosphatase - takes phosphate off glycogen phosphorylase kinase inactivating it
Inc vit B6

29. What does DNA poly III do?

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30. What is the defect in II A familial hypercholesterolemia
Limit protein diet - benzoate or phenylbutarate (both bind amino acids leading to excretion) can decrease ammonia levels
Inc intestinal absorption fo calcium and phosphate - inc bone resorption
AD absent of dec LDL receptors causes accelerated atherosclerosis - achilles xanthomas and corneal arcus - increase LDL and elecated cholesterol
Sever atherosclerotic disease early in life - and tendon xanthomas on the achilles - MI may develop before 20

31. nucleotide repeat for fragile x
CGG
Inc intake of ketogenic nutrients - high in fact content or inc lysine or leucine
1/4 of offspring from 2 carrier parents are affected - often enzyme def - usually only seen in 1 generation - often more sever than AD - presents in childhood
Phenylalanine hydroxylase - tetrahydrobiopterin cofactor

32. What is the activated carrier for methyl groups
Macrocytic - megaloblastic anemia - no neurologic sx - most common vit def in the US - seen in EtOH and pregs
SAM
Retardation - self mutilation - aggression - hyperuricemia - gout - choreoathetosis
Backup of substrate (pyruvate and alanine) resulting in lactic acidosis - congenital or acquired from thiamine def in EtOH - neuro defects

33. What tissues have both enzymes of sorbitol metabolism
Breaks down acyl - coa to acetyl coa groups in mito
Liver - ovaries - seminal vesicles
Pompe's lysosomal alpha 1 -4 glucosidase (acid maltase) (pompe trashes the pump; heart - liver - muscle)
Tuberous sclerosis

34. What does a kinase do
Uses ATP to add high energy phophate group onto substrate
Change resulting in early stop codon
They yield only acetyl - CoA equivalents
Lysine and leucine

35. What does arsenic do and What are th results of poisoning
Connective tissue
Inhibits lipoic acid - vomiting - rice water stools - garlic breath
CGG
Loss of brush border enzyme causing bloating - cramps - osmotic diarrhea

36. What are the purely ketogenic amino acids
Keep glutathione reduced so it can detoxify free radicals and peroxides
Pantothenate - essential component of CoA - a cofactor for acyl transfers and fatty acid synthase
Leu - lys
Never go to G0 - divide rapidly with a short G1 - bone marrow - gut epi - skin - hair follicles

37. How does abetalipoproteinemia present and What is the defect
SNP
Cheilosis - inflammation of lips - scaling and fissures at the corner of the mouth - corneal vascularization
Alpha1 antitrypsin
Early in life - AR - inability to synthesize lipoproteins due to def in apoB100 and B48 - intestinal biopsy shows accumulation within enterocytes due to inability to export absorbed lipid as chylomicrons - failure to thrive - steatorrhea - acanthocyt

38. What does apoCII do
Liver hepatocytes and steroid producing cells of the adrenal cortex
Cofactor for LPL
AR disorder characterized by defective neutral amino acid transporte on renal and intestinal epith cells
Inhibits lipoic acid - vomiting - rice water stools - garlic breath

39. What enzyme def can cause emphysema
Assistance of upper extremities to stand up
GTP hydrolysis - initiation factors assemble 40S ribosomal subunit with initiator tRNA and are released with mRNA and ribosomal subunit assemble with the complex
Grows slowly - collapses quickly
Alpha1 antitrypsin

40. What is the RDE of cholesterol synthesis
Many generations - both male and female affected - often pleiotropic - can present clinically after puberty
Progressive hreditary nephritis and deafness - associated with occular disturbances - due to abnl type IV collagen - usually x- linked recessive
Aldolase B - AR - fructose 1P accumulates causing a dec in availabel phosphate which inhibts glycogenolysis and gluconeogenesis leading to hypoglycemia - cirrhosis - jaundice and vomiting
HMG- CoA reductase

41. What are the results of CF on male fertility
Pseudomonas and s aureus
Cre - lox system
Males are infertile due to bilateral absence of vas deferens
Vit K antagonist

42. Leysh - Nyhan syndrome is a defect in which enzyme and What are the biochemical results
Supply sufficient glucose to brain and RBCs and to preserve protein
Tay- Sachs - hexosaminidase A - GM2 ganglioside - AR
Not all individuals with a mutant genotype show the mutant phenotype
HGPRT - defective purine salvage - excess uric acid production

43. Mild Hurlurs + aggressive behavior no corneal clouding
Assistance of upper extremities to stand up
Inc dicarboxylic acids - dec in glucose and ketones
Hunters - iduronate sulfatase - heparan sulfate/dermatan sulfate - XR
Phenytoin - MTX - and sulfonamides

44. colon becomes covered witih adenomatous polyps after puberty - progresses to colon cancer unless resected
Inc CPK and muscle biopsy
Inc NADH/NAD ratio in liver - causing diversion of pyruvate to lactate and OAA to malate - inhibiting gluconeogenesis and stimulating fatty acid synthesis. Leads to hypoglycemia and hepatic fatty liver change seen in chronic EtOH users
Phenylethamolamine N methyl transferase
FAP

45. What does hepatic TG lipase do
Degradation of TG remaining in IDL
Antioxidant - facilitates iron absorption by keeping iron in the Fe2+ reduced state - necessary for hydroxylation of proline and lysine collagen bridges - necessary for dopamine beta hydroxylase which converts DA to NE
Actin and myosin
B6

46. What do def in in enzymes of gluconeogenesis cause
Phosphorylation excess glucose to sequester it - liver becomes blood glucose buffer
Cyclin dependent kinases;constitutive and inactive
D2 = ergocalciferol - ingested from plants D3 = cholecalciferol - ingested from milk - formed in sun exposed skin
Hypoglycemia

47. Which end of the tRNA is the amino acid bound to...

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48. What is the amino acid precursor for catecholamines
Glutamate
Phenylalanine
Myeloperoxidase
High output cardiac failure - dilated cardiomyopathy - edema

49. What order kinetics does EtOH dehydrogenase have
IMP precursor
Cofactor of carboxyltion enzymes: pyruvate carboxylase - acetate - CoA carboxylase - and propionyl - CoA carboxylase
Zero
Tall with long extremeties - pectus excavatum - hyperextensive joints - arachnodactyly

50. What is the amino acid precursor for histamine
25OHD3
Oxidative and nonoxidative - no ATP produced or used
Transfers cholesterol from mature HDL to VLDL - IDL and LDL (cholesterol ester transfer protein)
Histidine

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Biochemistry

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