SGU Biochemistry, Clinical (Pre-Midterm)
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244 terms
Terms | Definitions |
|---|---|
 Example of dominant versus recessive genetics | Eye color, pea smoothness, pea color |
| Marfan Syndrome is an example of what type of genetic insufficiency? | Haploinsufficiency syndrome, 50% of a gene product results in mutant disorder |
| What type of 'Loss of Function Mutation' is Osteogenesis Imperfecta? | Dominant Negative, mutation in a gene whose products are a component of a protein complex |
| What type of 'Loss of Function Mutation' is Huntington's Disease? | Dominant Negative, mutation in gene causes the gene product to bind or inhibit another protein's activity |
| What type of 'Loss of Function Mutation' is Early Prostate Cancer? | Dominant Negative, mutant causes hyperactivity of gene product |
| What are the two main mechanisms for nucleoside/nucleotide analog pharmaceuticals? | Inhibition of nucleic acid sythesis, DNA incorporation leading to termination |
| Azidothymidine (AZT) (desc) | Nucleoside analog which lacks a free 3' OH, high affinity for reverse transcriptase, used against HIV |
| Didanosine (ddl) (desc) | Nucleoside analog which lacks a free 3' OH, high affinity for reverse transcriptase, used against HIV |
| Acyclovir (desc) | Nucelotide analog which possesses open chain structure in place of pentose, inhibitor of viral DNA polymerase, causes termination of DNA replication, used against Herpes |
| Tenofovir (desc) | Nucelotide analog which possesses open chain structure in place of pentose, inhibitor of reverse transcriptase, used against HIV |
| Arabinosides (desc) | e.g. Cytosine a. and Adenosine a., planar structures which inhibit DNA polymerase, induce DNA damage via DNA incorporation, anti-cancer drugs |
| Cytidine Analogs (desc) | e.g. 5-aza-2'-deoxycytidine and 5-azacytidine, disrupt epigenetic process of DNA methylation (via N atom at position 5 of cytidine), inhibitors of DNA-methyl-transferase |
| 5-Fluorouracil (desc) | Converted to FdUMP which inhibits thymidylate kinase > inhibits thymine synthesis, anti-cancer drugs |
| Azathioprine (desc) | Metabolized to 6-mercaptopurine, surpresses organ rejection |
| Allopurinol (desc) | Inhibits xanthine oxidase allowing less products to be converted to uric acid, gout treatment |
| Adenosine (Adenocard) (desc) | Used to treat supraventricular tachycardia, also used to treat sleep regulation |
| Acyclovir (mech) | Is converted to acyclovir triphosphate by thymidine kinase, which serves as substrate for viral DNA pol, lack of 3' -OH causes DNA termination |
| Cytarabine (Other Name) | Cytosine arabinoside |
| Vidarabine (Other Name) | Adenosine arabinoside |
| Ciprofloxacin (mech) | Inhibits DNA gyrase, leaving DNA supercoiled (quinalone drug) |
| RNA Dependent RNA Polymerase (Replicase) (desc) | Transcribe RNA from RNA template |
| Examples of RNA Dependent RNA Polymerases (Replicases) | Polio, Hepatitis C, Dengue Fever, Rubella, West Nile, Common Cold |
| RNA Dependent DNA Polymerase (desc) | Single stranded RNA genome, transcribes DNA from RNA template using reverse transcriptase, DNA copy inserted into host genome |
| Example of RNA Dependent DNA Polymerase | HIV |
| Death Cap Mushroom (amanita phalloides, mech) | Produces alpha-amanitin which inhibits RNA pol II |
| Phases of Death Cap Mushroom poisoning | 1) Asymptomatic, 2) Severe diarrhea/vomiting, 3) Apparent recovery, 4) Renal/Liver failure > death (7-10 days) |
| Novobiocin (desc) | Antibiotic which inhibits bacterial gyrase |
| Courmarins (desc) | Family of antibiotics that inhibit bacterial gyrases, e.g. novobiocin |
| Quinolones (desc) | Family of antibiotics that inhibit bacterial gyrases, e.g. nalidixic acid, ciproflaxin |
| Rifamycin (Rifampen) (mech) | Antibiotic that inhibits transcription initiation in prokaryotes |
| Actinomycin D (mech) | Inhibits transcription and replication in both prokaryotes and eukaryotes by interchelating dsDNA, not allowing it to unwind |
| NSAID (mech) | Example of eicosanoid, inhibition of prostaglandin and thromboxane synthesis, e.g. Aspirin |
| Nitroglycerin (mech) | Releases NO, used to treat angina pectoris |
| Which adrenergic receptor would be targeted by bronchodilators? | Beta-2 (Gs > increased cAMP > smooth muscle relaxation) |
| Cholera Toxin (mech) | ADP ribosylates alpha subunit of Gs rendering GTP unable to hydrolyze to GDP, chloride channel permanently open > cell dehydration |
| T/F: Mutations in RAS genes can lead to cancer | True |
| Approximately what percentage of human cancers are known to have mutations in RAS genes? | 30% |
| T/F: Proto-oncogenes are mutated | False |
| T/F: Oncogenes are mutated | True |
| Symptoms of lineoleic acid deficiency | Scaly dermatitis, hair loss, poor wound healing |
| Linoleic acid deficiency (test) | Mead acid (formed from oleic acid, signals linoleic acid deficiency) |
| Total Parenternal Nutrition (TPN) (def) | Intravenous essential FA administration |
| Respiratory Distress Syndrome (def, etiologies) | Deficiency of lung surfactant either by premature birth, type II pneumocyte harm or ABC transporter (delivers surfactant) defect |
| What is indicated from the ratio of PC to sphingomyelin? | Fetal lung maturity |
| What ratio of PC (Lecithin):sphingomyelin is indicative of fetal lung maturity? | 2+ |
| Caveolae (def, pathology mech) | Patches of plasma membrane with unique protein/lipid composition, pathogens usually enter cells here |
| T/F: Diabetic patients can utilize GLUT 4 transporters | False |
| Describe the relationship between SGLT 2 and diabetic patients | SGLT 2 may help in the uptake of glucose by nephrons in diabetic patients |
| Cystic Fibrosis Transmembrane Regulator (CFTR) (desc) | An ABC-transporter, once two ATPs are cleaved, the channel opens allowing chloride ions to pass out of the cell |
| Name a non-CFTR clinical function of ABC-transporters | Drug excretion (multidrug resistance, cancer), Surfactant release into alveoli, Free cholesterol release to HDL transport to liver |
| Physiological results of cystic fibrosis | Thick mucus in respiratory and intestinal mucosal linings, congenital bilateral absence of vas deferens |
| Codon 508: Phenylalanine | Most common mutation site for CFTR gene |
| Cystic Fibrosis (diagnostic) | Sweat test, high NaCl concentrations outside of the cell |
| Deficiency of CAT1 or CAT2 enzymes result in the loss of what energy producing pathway? | Beta oxidation |
| Jamaican vomiting sickness is caused by eating what? | Unripe fruit of the ackee tree |
| Unripe ackee fruit contains hypoglycin. Hypoglycin produces what effect? | Powerful irreversible inhibitor of medium and short chain acyl-CoA dehydrogenases > inhibition of beta oxidation |
| What congenital defect results in soluble acyl carnitines being found in the blood and urine? | Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) |
| What deficiency can result in methylmalonate production being found in the urine and bloodstream of affected patients? | Vitamin B12 (pernicious anemia, methylmalonyl-CoA mutase malfunction) |
| What general defect is caused by the biogenetic lack of peroxisomes in all tissues? | Zellweger Syndrome |
| What is the name of the rare autosomal recessive genetic disorder in which alpha-oxidation is impaired? | Refsum's Disease |
| What molecules are found in the blood stream during period of starvation and/or uncontrolled type one diabetes? | Ketone bodies |
| During metabolic analysis, which ketone bodies can help determine the reduction status of a patient's mitochondria? | Acetoacetate and 3-hydroxybutyrate |
| An increased concentration of ketone bodies in the blood is termed what? | Ketonemia |
| An increased concentration of ketone bodies in the urine is termed what? | Ketonuria |
| A hydrogen ion imbalance associated with the production of ketone bodies is termed what? | Ketoacidosis |
| Acetylsalicylic acid is what type of enzymatic inhibitor? | Irreversible, cyclooxygenase |
| What molecule acts as a structural analogue of succinate, which drives its function as a competitive inhibitor of succinate dehydrogenase? | Malonate |
| What molecule binds to the Fe2+ ion in the active site of aconitase, rendering the reaction inhibited? | Fluorocitrate |
| What is the mechanism of phenylketouria? | Deficiency in phenylalanine hydroxylase, diversion of metabolism to phenyl ketone derivatives |
| What molecule (relating to Maple Syrup Disease) accumulates in children causing the inhibition of mitochondrial pyruvate translocase? | Alpha-ketoisocaprotate |
| Describe maple syrup urine disease | A genetic disorder causing a defect in branched-chain amino acid metabolism |
| Name two molecules that react with lipoamide and prevent it from reacting within the PDH complex | Hg2+, arsenite |
| T/F: Agent 2,3-dimercaptopropanol removes the inhibition of PDH caused by Hg2+ and/or arsenite | True |
| A deficiency of what cofactor results in Beri-beri disease? | Thiamine |
| T/F: Westerners are most prone to Beri-beri disease than Asians | False |
| T/F: Thiamine can be obtained from the diet in rice, meat and yeast | True |
| What condition results when a minor deficiency of thiamine is present? | Dry beri-beri disease |
| What condition results when a major deficiency of thiamine is present? | Wet beri-beri disease |
| What condition results when thiamine deficiency is combined with alcohol abuse? | Wernicke's encepalopathy |
| T/F: Severe defects in any PDH enzymes can lead to neurological disease which can result in mental retardation or death | True |
| What condition(s) results from the build up of lactate due to PDH deficiency? | Leigh's disease (acidosis from increased amounts of lactate) |
| Where is the gene found which encodes for the alpha subunit of the E1 part of the PDH complex (common deficiency)? | X chromosome |
| While no cure is presently available for PDH diseases, what type of diet benefits some patients? | Low carbohydrate, high fat |
| Proteins that are misfolded are generally tagged as defective with ubiquitin. In what neural disease(s) is this function not present? | Alzheimer's disease, prion disease |
| T/F: DHP (di-isopropyl phosphofluoridate) is an irreversible inhibitor is acetylcholine esterase | True |
| To which residue does DHP bind to tin render acetylcholine esterase inhibited? | Serine in catalytic site |
| T/F: Aspirin is a reversible inhibiter | False |
| What enzyme does aspirin irreversibly inhibit? | Cyclooxygenase |
| What is the amino acid related mechanism of aspirin inhibition? | Aspirin acetylates a serine residue in the active site of cyclooxygenase |
| Is Lovastatin a competitive or non-competitive inhibitor based on the information that it binds to the enzyme's active site? | Competitive inhibitor |
| T/F: Myocardial cells must die in order for their contents to be released | True |
| T/F: Hepatocytes must die in order for their contents to be released | False |
| What is the half-life of creatine kinase in the blood? | 18hrs |
| What is the half-life of aspartate aminotransferase in the blood? | 1day (cytosol), 1hr (mitochondria) |
| What is the half-life of lactate dehydrogenase (LDH1) in the blood? | 5days |
| T/F: Creatine kinase is found in the liver | False |
| What pathologies can CK markers be used for? | AMI, rhabdomyolosis, muscular dystrophy, acute renal failure |
| What are the subunits of creatine kinase? | M and B |
| Where is CK-BB found? | Brain, intestinal smooth muscle |
| T/F: CK-BB accumulates in serum | False |
| In myocardium, what percentage of CK is CK-MB? | 30% |
| In myocardium, what percentage of CK is CK-MM? | 70% |
| Generally, what percentage of total CK needs to be CK-MB to be indicative of an MI? | >5% |
| Where is CK-MM primarily found? | Skeletal muscle |
| Approximately what percent of skeletal muscle CK is CK-MB? | <1% |
| How can CK isozymes be separated? | Gel electrophoresis |
| What serum markers can be visualized within hours of an acute MI? | CK-MB, troponin I, troponin T, myoglobin |
| T/F: Myoglobin is specific to the heart | False |
| T/F: Tropnin C does not have an isozyme that is specific for the heart | True |
| What are the two subunits of the serum marker LDH? | H and M |
| In what body area(s) can LDH1 normally be found? | Heart > RBC |
| In what body area(s) can LDH2 normally be found? | RBC > Heart |
| In what body area(s) can LDH5 normally be found? | Liver > Muscle |
| T/F: Normally, the body has a low LDH1/LDH2 ratio | True |
| T/F: Upon cardiac injury, the switch to a high LDH1/LDH2 ratio is termed the 'LDH Flip' and is indicative of an MI | True |
| Approximately how long does CK-MB take to again reach baseline once increased? | 2 days |
| T/F: Functional liver failure does not occur until 80% of the liver capacity has been damaged | True |
| Which enzyme is found more in hepatocytes than any other tissue in the body and can be indicative of liver damage via systemic cirulation? | Alanine aminotransferase (ALT, sALT) |
| Which enzyme is found in hepatocyte cytosol and mitochondria and can be indicative of liver damage via systemic circulation? | Aspartate aminotransferase (AST, sAST) |
| T/F: An indicator for ethanol-related liver damage would be a sAST/sALT <2 | False |
| This enzyme can be found in liver, bone, intestine and placenta. Its placement in the blood can be indicative of cirrhosis or gall stones. | Alkaline phosphatase (ALP) |
| This enzyme is involved in the gamma-glutamyl cycle and can be induced in the liver after high ethanol intake or due to medical drugs. | Gamma-glutamyltranspeptidase |
| Which serum marker(s) might be elevated during biliary tree obstruction? | ALP, GGT |
| What is a common serum marker for prostate cancer? | PSA |
| What is a common serum marker for liver cancer? | Alpha fetoprotein |
| What are common serum markers for acute pancreatitis? | Alpha-amylase, pancreatic lipase |
| What occurs when there are variations in the DNA sequence of the cytochrome p450 gene? | Variations in the individual's ability to metabolize certain drugs |
| What is the mechanism behind osteogenesis imperfecta? | Abnormal collagen formation leading to brittle bones |
| Nalidixic acid (mech) | Inhibits DNA gyrase, leaving DNA supercoiled (quinalone drug) |
| Individuals with lupus possess antibodies that attack which component of a splicesome? | U1 RNA component |
| T/F: Individuals with beta-thalasemmia have mutations in the beta globin gene that generate additional splice sites within the mRNA | True |
| A mutation in the calpain 3 gene that generates a new splice site within exon 16 occurs in which disease? | Limb Girdle Muscular Dystrophy |
| This disease can be common in most adults and leads to bloating and diarrhea after ingestion of milk | Lactose intolerance |
| What is the main mechanism for Kwashiorkor manifestations? | Insufficient dietary protein (primarily albumin) |
| T/F: Antacids do not interfere with protein degredation | False |
| Deficiency of conjugated bile salts can lead to which two conditions | Gallstones and/or steatorrhea |
| T/F: Steatorrhea can lead to lack of dietary fatty acids and fat-soluble vitamins | True |
| A lack of which fat-soluble vitamin may lead to night blindness | Vitamin A |
| What is the condition termed that results from activation of digestive enzymes while still in the pancreas? | Autocatalytic pancreatitis |
| Patients suffering from cystic fibrosis should eat what type of diet? | Frequently eat diet rich in milk and TAGs with medium chain FAs |
| List some common causes for cholelithiasis | Decreased amounts of bile salts (PC in bile), increased biliary cholesterol secretion |
| What is primary lactose intolerance? | Reduced lactase activity, common with age |
| What is secondary lactose intolerance? | Intestinal injury stemming from severe diarrhea, gastroenteritis (rotavirus) or celiac disease |
| In which populations is primary lactose intolerance most prevalent? | Asians, African-Americans, Native Americans |
| In which population is primary lactose intolerance lease prevalent? | Northern Europe societies |
| What is congenital lactase deficiency? | A rare autosomal recessive disorder (previously life-threatening) |
| The sugar-type ring in arabinose drugs is termed what? | Furanose |
| What molecule may accumulate in the eye, potentially leading to cataracts or blindness? | Sorbitol |
| What population is particularly prone to MCADD deficiency? | Nursing infants (as they are reliant on FA nutrition) |
| This molecule is an important diagnostic indicator of high plasma ketone body levels when detected on the breath of affected individuals | Acetone |
| The PKU disorder can result in an accumulation of phenylpyruvate, which inhibits what molecule transporter? | Pyruvate translocase |
| T/F: Thiamine is required to make the prosthetic group of alpha-ketoglutarate dehydrogenase and transketolase | True |
| List some inhibitors of Complex I within the ETC | Rotenone, Amytal, Piericidin A |
| Name an inhibitor of Complex III within the ETC | Antimycin A |
| List some inhibitors of Complex IV within the ETC | Cyanide, Azide, H2S, Carbon monoxide |
| T/F: Rotenone is used as a fish poison by South American Indians | True |
| T/F: Amytal is a barbituate | True |
| T/F: Cyanide, azide and H2S all bind to the Fe3+ form of cytochrome a3 | True |
| T/F: Carbon monoxide binds to the Fe3+ form of cytochrome a3 | False |
| Synthesis of ATP can be inhibited by this drug, which binds to one of the subunits of Fo and prevents re-entry of H+ ions into the mitochondrial matrix | Oligomycin |
| This molecule acts as an uncoupler of the ETC by providing a means whereby H+ ions can re-enter into the mitochondrial matrix without participating in ATP synthase | 2,4-dinitrophenol |
| This substance destroys that inner mitochondrial membrane potential by bringing K+ ions within the membrane | Valinomycin |
| This substance uncouples the ETC by forming a hydrophilic trans-membrane channel, through which ions can cross the membrane | Gramicidin A |
| This substance forms channels in the inner mitochondrial membrane which allows ions such as Cl- and OH- to pass from the matrix to the intermembrane space, resulting in heat release | Thermogenin |
| T/F: Thermogenin occurs naturally to aid in newborn infant heat maintenance | True |
| This compound is a competitive inhibitor of the ATP/ADP translocase transport protein | Atractyloside |
| This compound is another inhibitor (non-Atractyloside) of ATP/ADP translocase transport | Bongkrekik acid |
| T/F: Atrctyloside, bongkrekik acid and oligomycin all may eventually lead to ETC shutdown by the presence of such a large H+ gradient | True |
| Are mitochondrial diseases transmitted maternally or paternally? | Maternal |
| T/F: Leber Hereditary Optic Neuropathy (LHON) is a mitochondrial disease | True |
| T/F: Myoclonic Epilepsy and Ragged-Red-Fiber Disease (MERRF) is a mitochondrial-based disease | True |
| T/F: Mitochondrial Myopathy, Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) is a mitochondrial-based disease | True |
| T/F: Aminoglycoside Induced Deafness is a mitchondrial-based disease | True |
| T/F: Glycogen storage diseases are numbered (e.g. I, II) | True |
| Which of the glycogen storage diseases is most common? | Von Gierke's (Type I) |
| Which enzyme is faulty in von Gierke's disease? | Glucse-6-phosphatase |
| Which glycogen storage disease results from the deficiency of lysosomal alpha-1,4 and 1,6 glucosidase enzymes? | Pompe's |
| Which glycogen storage disease results from the absence of debranching enzyme? | Cori's (Type III) |
| Which glycogen storage disease results from the absence of branching enzyme? | Andersen's (Type IV) |
| T/F: Anderson's disease is fairly common | False |
| Which glycogen storage disease results from the absence of muscle phosphorylase? | McArdle's (Type V) |
| Which glycogen storage disease results from a deficiency in liver phosphorylase? | Hers' (Type VI) |
| Which glycogen storage disease results from a deficiency of PFK1 in muscle and RBCs? | Tarui's (Type VII) |
| Which of the glycogen storage diseases are most fatal? | Pompe's (II), Andersen's (IV) |
| What is a mneumonic for glycogen storage diseases (1-6)? | Viagra Pills Cause A Major Hardon |
| What is a mneumonic for glycogen storage diseases (1-7)? | Go Pick Cherries And Make Her Talk |
| What condition may arise when drugs such as primaquine, aspirin, sulfonamides are administered? (possibly with the addition of fava beans) | Drug Induced Hemolytic Anemia |
| What condition results from a deficiency in glucose-6-phosphate dehydrogenase? | Drug Induced Hemolytic Anemia |
| T/F: Drug Induced Hemolytic Anemia is not a sex linked genetic disorder | False |
| What ethnic groups suffer most from Drug Induced Hemolytic Anemia? | African, Mediterranean, Black Americans |
| What condition is caused by a defect in the gene for aldolase B? | Hereditary Fructose Intolerance (HFI) |
| T/F: Hereditary Fructose Intolerance (HFI) is inherited in an autosomal dominant manner | True |
| What condition results from a defect in the fructokinase enzyme? | Essential Fructosuria |
| What enzyme deficiency/deficiencies causes galactosemia and/or galactosuria? | Galactokinase, Galactose 1-Phosphate Uridyl Transferase |
| What is a clinical result of the accumulation of galactitol? | Cataracts |
| What enzyme is deficient in classical galactosemia? | Galactose 1-Phosphate Uridyl Transferase |
| How can both galactokinase and galactose 1-phosphate uridyl transferase deficiencies by treated via the diet? | Restricting the intake of galactose |
| Which set of diseases affect the proper development/maintenance of the skeletal system and are characterized by a defect in sulfation in growing GAG chains? | Chondrodystrophies |
| What is the name of the bacteria primarily responsible with causing gastric ulcerations? | Heliobacter pylori |
| A dysfunctional ECM may result in which pathologies? | Cancer cell mobility, osteoarthritis, rheumatoid arthritis, renal malfunction |
| Vitamin C deficiency can lead to improper collagen formation, known to clinicians as what pathology? | Scurvy |
| What disease may result from defect enzymes in collagen synthesis? | Ehlers-Danlos Syndrome |
| Which type of Osteogenesis Imperfecta is the mildest? | Type I |
| Which type of Osteogenesis Imperfecta is the most severe? | Type II |
| Which type of Osteogenesis Imperfecta is the most common? | Type IV |
| What protein is defective in Marfan's Syndrome? | Fibrillin-1 |
| T/F: Pompe's disease is classified as both a glycogen storage and lysosomal storage disease | True |
| A deficiency in iduronate sulfatase leads to this LSD | Hunter Syndrome (MPS II) |
| List some characteristics/symptoms of individuals with Hunter Syndrome | Broad range of severity, facial feature coarseness, frequent ear/respiratory infection, mental retardation, deafness, short stature, claw hands, hepatosplenomegaly |
| A deficiency in iduronase leads to this LSD | Hurler Syndrome (MPS I) |
| List some characteristics/symptoms of individuals with Hurler Syndrome | Short stature, choarse facial features, macrocephaly, restricted joint mobility, hepatosplenomegaly, cloudy corneas, moderately severe mental delay |
| Which LSD is more severe, Hunter or Hurler? | Hurler |
| What is the common diagnostic for either Hunter or Hurler Syndrome? | GAGs in urine |
| Which LSD, Hunter or Hurler, is X-linked? | Hunter |
| Which LSD, Hunter or Hurler, presents with the symptom of corneal clouding? | Hurler |
| List different sphingolipidoses | Tay-Sach's, Fabry, Gaucher's, Niemann-Pick Diseases |
| Which enzyme is deficient in Tay-Sach's disease? | Beta hexosaminidase A |
| Which metabolic storage diseases present with cherry-red macula inclusions? | Tay-Sach's, Hurler Syndrome, Niemann-Pick Disease |
| T/F: Tay-Sach's can present in either an infantile or late-onset form | True |
| Which LSD presents with reddish skin lesions, impaired sweating, burning/tingling of extremities, and/or muscle weakness/fatigue? | Fabry's Disease |
| T/F: Fabry's Disease is not X-linked | False |
| T/F: The Fabry's Disease symptom of reddish skin lesions are usually hidden under clothes | True |
| Which LSD is the most prevalent? | Gaucher's Disease |
| Histologically, what appearance does Gaucher's Disease give? | Crumpled tissue paper within the cytoplasm |
| T/F: Gaucher's Disease is often found in infants | False |
| List two symptoms of Gaucher's Disease in adults | Severe hepatosplenomegaly, osteoporosis of long bones |
| Name the disorder that results from a defect in transport of several lysosomal enzymes from their synthesis in the ER into lysosomes | I-Cell Disease |
| T/F: I-Cell Disease is considered rare | True |
| Which LSD is similar to Hurler Syndrome but has an earlier onset and presents with no GAGs in the urine? | I-Cell Disease |
| The deficiency of acid sphingomyelinase results in which LSD? | Niemann-Pick Disease |
| What compound accumulates in the spleen, liver and brain in Niemann-Pick Disease? | Sphingomyelin |
| T/F: Type A Niemann-Pick Disease is considered classic infantile and does not lead to death | False |
| T/F: Type B Niemann-Pick Disease is considered visceral and does not lead to death | True |
| Which compound accumulates in Tay-Sach's Disease? | Ganglioside GM2 |
| Which enzyme is deficient in Fabry's Disease? | Alpha galactosidase A |
| Which compound accumulates in Fabry's Disease? | Ceramide trihexoside |
| Which enzyme is deficient in Gaucher's Disease? | Beta glucocerebrosidase |
| Which compound acumulates in Gaucher's Disease? | Glucocerebrosides |
| I-Cell Disease results from an absence of what? | Mannose-6-phosphate marker |
| What other alias does I-Cell Disease have? | Mucolipidosis II |
| Which enzyme is deficient in Niemann-Pick Disease? | Acid sphingomyelinase |
| What is the purpose of alpha-antitrypsin? | Inhibit neutrophil elastase |
| Where is alpha-antitrypsin mostly synthesized? | Liver |
| This agent is an irreversible inhibitor of acetylcholine esterase as it covalently binds to the serine in the active site | Di-isopropyl phosphofluoridate (DFP) |
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