1.
5-Fluorouracil (desc): Converted to FdUMP which inhibits thymidylate kinase > inhibits thymine synthesis, anti-cancer drugs
2.
A deficiency in iduronase leads to this LSD: Hurler Syndrome (MPS I)
3.
A deficiency in iduronate sulfatase leads to this LSD: Hunter Syndrome (MPS II)
4.
A deficiency of what cofactor results in Beri-beri disease?: Thiamine
5.
A dysfunctional ECM may result in which pathologies?: Cancer cell mobility, osteoarthritis, rheumatoid arthritis, renal malfunction
6.
A hydrogen ion imbalance associated with the production of ketone bodies is termed what?: Ketoacidosis
7.
A lack of which fat-soluble vitamin may lead to night blindness: Vitamin A
8.
A mutation in the calpain 3 gene that generates a new splice site within exon 16 occurs in which disease?: Limb Girdle Muscular Dystrophy
9.
Acetylsalicylic acid is what type of enzymatic inhibitor?: Irreversible, cyclooxygenase
10.
Actinomycin D (mech): Inhibits transcription and replication in both prokaryotes and eukaryotes by interchelating dsDNA, not allowing it to unwind
11.
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
12.
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
13.
Adenosine (Adenocard) (desc): Used to treat supraventricular tachycardia, also used to treat sleep regulation
14.
Allopurinol (desc): Inhibits xanthine oxidase allowing less products to be converted to uric acid, gout treatment
15.
An increased concentration of ketone bodies in the blood is termed what?: Ketonemia
16.
An increased concentration of ketone bodies in the urine is termed what?: Ketonuria
17.
Approximately how long does CK-MB take to again reach baseline once increased?: 2 days
18.
Approximately what percent of skeletal muscle CK is CK-MB?: <1%
19.
Approximately what percentage of human cancers are known to have mutations in RAS genes?: 30%
20.
Arabinosides (desc): e.g. Cytosine a. and Adenosine a., planar structures which inhibit DNA polymerase, induce DNA damage via DNA incorporation, anti-cancer drugs
21.
Are mitochondrial diseases transmitted maternally or paternally?: Maternal
22.
Azathioprine (desc): Metabolized to 6-mercaptopurine, surpresses organ rejection
23.
Azidothymidine (AZT) (desc): Nucleoside analog which lacks a free 3' OH, high affinity for reverse transcriptase, used against HIV
24.
Caveolae (def, pathology mech): Patches of plasma membrane with unique protein/lipid composition, pathogens usually enter cells here
25.
Cholera Toxin (mech): ADP ribosylates alpha subunit of Gs rendering GTP unable to hydrolyze to GDP, chloride channel permanently open > cell dehydration
26.
Ciprofloxacin (mech): Inhibits DNA gyrase, leaving DNA supercoiled (quinalone drug)
27.
Codon 508: Phenylalanine: Most common mutation site for CFTR gene
28.
Courmarins (desc): Family of antibiotics that inhibit bacterial gyrases, e.g. novobiocin
29.
Cystic Fibrosis (diagnostic): Sweat test, high NaCl concentrations outside of the cell
30.
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
31.
Cytarabine (Other Name): Cytosine arabinoside
32.
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
33.
Death Cap Mushroom (amanita phalloides, mech): Produces alpha-amanitin which inhibits RNA pol II
34.
Deficiency of CAT1 or CAT2 enzymes result in the loss of what energy producing pathway?: Beta oxidation
35.
Deficiency of conjugated bile salts can lead to which two conditions: Gallstones and/or steatorrhea
36.
Describe maple syrup urine disease: A genetic disorder causing a defect in branched-chain amino acid metabolism
37.
Describe the relationship between SGLT 2 and diabetic patients: SGLT 2 may help in the uptake of glucose by nephrons in diabetic patients
38.
Didanosine (ddl) (desc): Nucleoside analog which lacks a free 3' OH, high affinity for reverse transcriptase, used against HIV
39.
During metabolic analysis, which ketone bodies can help determine the reduction status of a patient's mitochondria?: Acetoacetate and 3-hydroxybutyrate
40.
Example of dominant versus recessive genetics: Eye color, pea smoothness, pea color
41.
Example of RNA Dependent DNA Polymerase: HIV
42.
Examples of RNA Dependent RNA Polymerases (Replicases): Polio, Hepatitis C, Dengue Fever, Rubella, West Nile, Common Cold
43.
Generally, what percentage of total CK needs to be CK-MB to be indicative of an MI?: >5%
44.
Histologically, what appearance does Gaucher's Disease give?: Crumpled tissue paper within the cytoplasm
45.
How can both galactokinase and galactose 1-phosphate uridyl transferase deficiencies by treated via the diet?: Restricting the intake of galactose
46.
How can CK isozymes be separated?: Gel electrophoresis
47.
I-Cell Disease results from an absence of what?: Mannose-6-phosphate marker
48.
In myocardium, what percentage of CK is CK-MB?: 30%
49.
In myocardium, what percentage of CK is CK-MM?: 70%
50.
In what body area(s) can LDH1 normally be found?: Heart > RBC
51.
In what body area(s) can LDH2 normally be found?: RBC > Heart
52.
In what body area(s) can LDH5 normally be found?: Liver > Muscle
53.
In which population is primary lactose intolerance lease prevalent?: Northern Europe societies
54.
In which populations is primary lactose intolerance most prevalent?: Asians, African-Americans, Native Americans
55.
Individuals with lupus possess antibodies that attack which component of a splicesome?: U1 RNA component
56.
Is Lovastatin a competitive or non-competitive inhibitor based on the information that it binds to the enzyme's active site?: Competitive inhibitor
57.
Jamaican vomiting sickness is caused by eating what?: Unripe fruit of the ackee tree
58.
Linoleic acid deficiency (test): Mead acid (formed from oleic acid, signals linoleic acid deficiency)
59.
List different sphingolipidoses: Tay-Sach's, Fabry, Gaucher's, Niemann-Pick Diseases
60.
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
61.
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
62.
List some common causes for cholelithiasis: Decreased amounts of bile salts (PC in bile), increased biliary cholesterol secretion
63.
List some inhibitors of Complex I within the ETC: Rotenone, Amytal, Piericidin A
64.
List some inhibitors of Complex IV within the ETC: Cyanide, Azide, H2S, Carbon monoxide
65.
List two symptoms of Gaucher's Disease in adults: Severe hepatosplenomegaly, osteoporosis of long bones
66.
Marfan Syndrome is an example of what type of genetic insufficiency?: Haploinsufficiency syndrome, 50% of a gene product results in mutant disorder
67.
Nalidixic acid (mech): Inhibits DNA gyrase, leaving DNA supercoiled (quinalone drug)
68.
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
69.
Name an inhibitor of Complex III within the ETC: Antimycin A
70.
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
71.
Name two molecules that react with lipoamide and prevent it from reacting within the PDH complex: Hg2+, arsenite
72.
Nitroglycerin (mech): Releases NO, used to treat angina pectoris
73.
Novobiocin (desc): Antibiotic which inhibits bacterial gyrase
74.
NSAID (mech): Example of eicosanoid, inhibition of prostaglandin and thromboxane synthesis, e.g. Aspirin
75.
Patients suffering from cystic fibrosis should eat what type of diet?: Frequently eat diet rich in milk and TAGs with medium chain FAs
76.
Phases of Death Cap Mushroom poisoning: 1) Asymptomatic, 2) Severe diarrhea/vomiting, 3) Apparent recovery, 4) Renal/Liver failure > death (7-10 days)
77.
Physiological results of cystic fibrosis: Thick mucus in respiratory and intestinal mucosal linings, congenital bilateral absence of vas deferens
78.
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
79.
Quinolones (desc): Family of antibiotics that inhibit bacterial gyrases, e.g. nalidixic acid, ciproflaxin
80.
Respiratory Distress Syndrome (def, etiologies): Deficiency of lung surfactant either by premature birth, type II pneumocyte harm or ABC transporter (delivers surfactant) defect
81.
Rifamycin (Rifampen) (mech): Antibiotic that inhibits transcription initiation in prokaryotes
82.
RNA Dependent DNA Polymerase (desc): Single stranded RNA genome, transcribes DNA from RNA template using reverse transcriptase, DNA copy inserted into host genome
83.
RNA Dependent RNA Polymerase (Replicase) (desc): Transcribe RNA from RNA template
84.
Symptoms of lineoleic acid deficiency: Scaly dermatitis, hair loss, poor wound healing
85.
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
86.
T/F: Agent 2,3-dimercaptopropanol removes the inhibition of PDH caused by Hg2+ and/or arsenite: True
87.
T/F: Aminoglycoside Induced Deafness is a mitchondrial-based disease: True
88.
T/F: Amytal is a barbituate: True
89.
T/F: An indicator for ethanol-related liver damage would be a sAST/sALT <2: False
90.
T/F: Anderson's disease is fairly common: False
91.
T/F: Antacids do not interfere with protein degredation: False
92.
T/F: Aspirin is a reversible inhibiter: False
93.
T/F: Atrctyloside, bongkrekik acid and oligomycin all may eventually lead to ETC shutdown by the presence of such a large H+ gradient: True
94.
T/F: Carbon monoxide binds to the Fe3+ form of cytochrome a3: False
95.
T/F: CK-BB accumulates in serum: False
96.
T/F: Creatine kinase is found in the liver: False
97.
T/F: Cyanide, azide and H2S all bind to the Fe3+ form of cytochrome a3: True
98.
T/F: DHP (di-isopropyl phosphofluoridate) is an irreversible inhibitor is acetylcholine esterase: True
99.
T/F: Diabetic patients can utilize GLUT 4 transporters: False
100.
T/F: Drug Induced Hemolytic Anemia is not a sex linked genetic disorder: False
101.
T/F: Fabry's Disease is not X-linked: False
102.
T/F: Functional liver failure does not occur until 80% of the liver capacity has been damaged: True
103.
T/F: Gaucher's Disease is often found in infants: False
104.
T/F: Glycogen storage diseases are numbered (e.g. I, II): True
105.
T/F: Hepatocytes must die in order for their contents to be released: False
106.
T/F: Hereditary Fructose Intolerance (HFI) is inherited in an autosomal dominant manner: True
107.
T/F: I-Cell Disease is considered rare: True
108.
T/F: Individuals with beta-thalasemmia have mutations in the beta globin gene that generate additional splice sites within the mRNA: True
109.
T/F: Leber Hereditary Optic Neuropathy (LHON) is a mitochondrial disease: True
110.
T/F: Mitochondrial Myopathy, Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) is a mitochondrial-based disease: True
111.
T/F: Mutations in RAS genes can lead to cancer: True
112.
T/F: Myocardial cells must die in order for their contents to be released: True
113.
T/F: Myoclonic Epilepsy and Ragged-Red-Fiber Disease (MERRF) is a mitochondrial-based disease: True
114.
T/F: Myoglobin is specific to the heart: False
115.
T/F: Normally, the body has a low LDH1/LDH2 ratio: True
116.
T/F: Oncogenes are mutated: True
117.
T/F: Pompe's disease is classified as both a glycogen storage and lysosomal storage disease: True
118.
T/F: Proto-oncogenes are mutated: False
119.
T/F: Rotenone is used as a fish poison by South American Indians: True
120.
T/F: Severe defects in any PDH enzymes can lead to neurological disease which can result in mental retardation or death: True
121.
T/F: Steatorrhea can lead to lack of dietary fatty acids and fat-soluble vitamins: True
122.
T/F: Tay-Sach's can present in either an infantile or late-onset form: True
123.
T/F: The Fabry's Disease symptom of reddish skin lesions are usually hidden under clothes: True
124.
T/F: Thermogenin occurs naturally to aid in newborn infant heat maintenance: True
125.
T/F: Thiamine can be obtained from the diet in rice, meat and yeast: True
126.
T/F: Thiamine is required to make the prosthetic group of alpha-ketoglutarate dehydrogenase and transketolase: True
127.
T/F: Tropnin C does not have an isozyme that is specific for the heart: True
128.
T/F: Type A Niemann-Pick Disease is considered classic infantile and does not lead to death: False
129.
T/F: Type B Niemann-Pick Disease is considered visceral and does not lead to death: True
130.
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
131.
T/F: Westerners are most prone to Beri-beri disease than Asians: False
132.
Tenofovir (desc): Nucelotide analog which possesses open chain structure in place of pentose, inhibitor of reverse transcriptase, used against HIV
133.
The deficiency of acid sphingomyelinase results in which LSD?: Niemann-Pick Disease
134.
The PKU disorder can result in an accumulation of phenylpyruvate, which inhibits what molecule transporter?: Pyruvate translocase
135.
The sugar-type ring in arabinose drugs is termed what?: Furanose
136.
This agent is an irreversible inhibitor of acetylcholine esterase as it covalently binds to the serine in the active site: Di-isopropyl phosphofluoridate (DFP)
137.
This compound is a competitive inhibitor of the ATP/ADP translocase transport protein: Atractyloside
138.
This compound is another inhibitor (non-Atractyloside) of ATP/ADP translocase transport: Bongkrekik acid
139.
This disease can be common in most adults and leads to bloating and diarrhea after ingestion of milk: Lactose intolerance
140.
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)
141.
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
142.
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
143.
This molecule is an important diagnostic indicator of high plasma ketone body levels when detected on the breath of affected individuals: Acetone
144.
This substance destroys that inner mitochondrial membrane potential by bringing K+ ions within the membrane: Valinomycin
145.
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
146.
This substance uncouples the ETC by forming a hydrophilic trans-membrane channel, through which ions can cross the membrane: Gramicidin A
147.
To which residue does DHP bind to tin render acetylcholine esterase inhibited?: Serine in catalytic site
148.
Total Parenternal Nutrition (TPN) (def): Intravenous essential FA administration
149.
Unripe ackee fruit contains hypoglycin. Hypoglycin produces what effect?: Powerful irreversible inhibitor of medium and short chain acyl-CoA dehydrogenases > inhibition of beta oxidation
150.
Vidarabine (Other Name): Adenosine arabinoside
151.
Vitamin C deficiency can lead to improper collagen formation, known to clinicians as what pathology?: Scurvy
152.
What are common serum markers for acute pancreatitis?: Alpha-amylase, pancreatic lipase
153.
What are the subunits of creatine kinase?: M and B
154.
What are the two main mechanisms for nucleoside/nucleotide analog pharmaceuticals?: Inhibition of nucleic acid sythesis, DNA incorporation leading to termination
155.
What are the two subunits of the serum marker LDH?: H and M
156.
What compound accumulates in the spleen, liver and brain in Niemann-Pick Disease?: Sphingomyelin
157.
What condition is caused by a defect in the gene for aldolase B?: Hereditary Fructose Intolerance (HFI)
158.
What condition may arise when drugs such as primaquine, aspirin, sulfonamides are administered? (possibly with the addition of fava beans): Drug Induced Hemolytic Anemia
159.
What condition results from a defect in the fructokinase enzyme?: Essential Fructosuria
160.
What condition results from a deficiency in glucose-6-phosphate dehydrogenase?: Drug Induced Hemolytic Anemia
161.
What condition results when a major deficiency of thiamine is present?: Wet beri-beri disease
162.
What condition results when a minor deficiency of thiamine is present?: Dry beri-beri disease
163.
What condition results when thiamine deficiency is combined with alcohol abuse?: Wernicke's encepalopathy
164.
What condition(s) results from the build up of lactate due to PDH deficiency?: Leigh's disease (acidosis from increased amounts of lactate)
165.
What congenital defect results in soluble acyl carnitines being found in the blood and urine?: Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
166.
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)
167.
What disease may result from defect enzymes in collagen synthesis?: Ehlers-Danlos Syndrome
168.
What enzyme deficiency/deficiencies causes galactosemia and/or galactosuria?: Galactokinase, Galactose 1-Phosphate Uridyl Transferase
169.
What enzyme does aspirin irreversibly inhibit?: Cyclooxygenase
170.
What enzyme is deficient in classical galactosemia?: Galactose 1-Phosphate Uridyl Transferase
171.
What ethnic groups suffer most from Drug Induced Hemolytic Anemia?: African, Mediterranean, Black Americans
172.
What general defect is caused by the biogenetic lack of peroxisomes in all tissues?: Zellweger Syndrome
173.
What is a clinical result of the accumulation of galactitol?: Cataracts
174.
What is a common serum marker for liver cancer?: Alpha fetoprotein
175.
What is a common serum marker for prostate cancer?: PSA
176.
What is a mneumonic for glycogen storage diseases (1-6)?: Viagra Pills Cause A Major Hardon
177.
What is a mneumonic for glycogen storage diseases (1-7)?: Go Pick Cherries And Make Her Talk
178.
What is congenital lactase deficiency?: A rare autosomal recessive disorder (previously life-threatening)
179.
What is indicated from the ratio of PC to sphingomyelin?: Fetal lung maturity
180.
What is primary lactose intolerance?: Reduced lactase activity, common with age
181.
What is secondary lactose intolerance?: Intestinal injury stemming from severe diarrhea, gastroenteritis (rotavirus) or celiac disease
182.
What is the amino acid related mechanism of aspirin inhibition?: Aspirin acetylates a serine residue in the active site of cyclooxygenase
183.
What is the common diagnostic for either Hunter or Hurler Syndrome?: GAGs in urine
184.
What is the condition termed that results from activation of digestive enzymes while still in the pancreas?: Autocatalytic pancreatitis
185.
What is the half-life of aspartate aminotransferase in the blood?: 1day (cytosol), 1hr (mitochondria)
186.
What is the half-life of creatine kinase in the blood?: 18hrs
187.
What is the half-life of lactate dehydrogenase (LDH1) in the blood?: 5days
188.
What is the main mechanism for Kwashiorkor manifestations?: Insufficient dietary protein (primarily albumin)
189.
What is the mechanism behind osteogenesis imperfecta?: Abnormal collagen formation leading to brittle bones
190.
What is the mechanism of phenylketouria?: Deficiency in phenylalanine hydroxylase, diversion of metabolism to phenyl ketone derivatives
191.
What is the name of the bacteria primarily responsible with causing gastric ulcerations?: Heliobacter pylori
192.
What is the name of the rare autosomal recessive genetic disorder in which alpha-oxidation is impaired?: Refsum's Disease
193.
What is the purpose of alpha-antitrypsin?: Inhibit neutrophil elastase
194.
What molecule (relating to Maple Syrup Disease) accumulates in children causing the inhibition of mitochondrial pyruvate translocase?: Alpha-ketoisocaprotate
195.
What molecule acts as a structural analogue of succinate, which drives its function as a competitive inhibitor of succinate dehydrogenase?: Malonate
196.
What molecule binds to the Fe2+ ion in the active site of aconitase, rendering the reaction inhibited?: Fluorocitrate
197.
What molecule may accumulate in the eye, potentially leading to cataracts or blindness?: Sorbitol
198.
What molecules are found in the blood stream during period of starvation and/or uncontrolled type one diabetes?: Ketone bodies
199.
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
200.
What other alias does I-Cell Disease have?: Mucolipidosis II
201.
What pathologies can CK markers be used for?: AMI, rhabdomyolosis, muscular dystrophy, acute renal failure
202.
What population is particularly prone to MCADD deficiency?: Nursing infants (as they are reliant on FA nutrition)
203.
What protein is defective in Marfan's Syndrome?: Fibrillin-1
204.
What ratio of PC (Lecithin):sphingomyelin is indicative of fetal lung maturity?: 2+
205.
What serum markers can be visualized within hours of an acute MI?: CK-MB, troponin I, troponin T, myoglobin
206.
What type of 'Loss of Function Mutation' is Early Prostate Cancer?: Dominant Negative, mutant causes hyperactivity of gene product
207.
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
208.
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
209.
Where is alpha-antitrypsin mostly synthesized?: Liver
210.
Where is CK-BB found?: Brain, intestinal smooth muscle
211.
Where is CK-MM primarily found?: Skeletal muscle
212.
Where is the gene found which encodes for the alpha subunit of the E1 part of the PDH complex (common deficiency)?: X chromosome
213.
Which adrenergic receptor would be targeted by bronchodilators?: Beta-2 (Gs > increased cAMP > smooth muscle relaxation)
214.
Which compound accumulates in Fabry's Disease?: Ceramide trihexoside
215.
Which compound accumulates in Tay-Sach's Disease?: Ganglioside GM2
216.
Which compound acumulates in Gaucher's Disease?: Glucocerebrosides
217.
Which enzyme is deficient in Fabry's Disease?: Alpha galactosidase A
218.
Which enzyme is deficient in Gaucher's Disease?: Beta glucocerebrosidase
219.
Which enzyme is deficient in Niemann-Pick Disease?: Acid sphingomyelinase
220.
Which enzyme is deficient in Tay-Sach's disease?: Beta hexosaminidase A
221.
Which enzyme is faulty in von Gierke's disease?: Glucse-6-phosphatase
222.
Which enzyme is found in hepatocyte cytosol and mitochondria and can be indicative of liver damage via systemic circulation?: Aspartate aminotransferase (AST, sAST)
223.
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)
224.
Which glycogen storage disease results from a deficiency in liver phosphorylase?: Hers' (Type VI)
225.
Which glycogen storage disease results from a deficiency of PFK1 in muscle and RBCs?: Tarui's (Type VII)
226.
Which glycogen storage disease results from the absence of branching enzyme?: Andersen's (Type IV)
227.
Which glycogen storage disease results from the absence of debranching enzyme?: Cori's (Type III)
228.
Which glycogen storage disease results from the absence of muscle phosphorylase?: McArdle's (Type V)
229.
Which glycogen storage disease results from the deficiency of lysosomal alpha-1,4 and 1,6 glucosidase enzymes?: Pompe's
230.
Which LSD is more severe, Hunter or Hurler?: Hurler
231.
Which LSD is similar to Hurler Syndrome but has an earlier onset and presents with no GAGs in the urine?: I-Cell Disease
232.
Which LSD is the most prevalent?: Gaucher's Disease
233.
Which LSD presents with reddish skin lesions, impaired sweating, burning/tingling of extremities, and/or muscle weakness/fatigue?: Fabry's Disease
234.
Which LSD, Hunter or Hurler, is X-linked?: Hunter
235.
Which LSD, Hunter or Hurler, presents with the symptom of corneal clouding?: Hurler
236.
Which metabolic storage diseases present with cherry-red macula inclusions?: Tay-Sach's, Hurler Syndrome, Niemann-Pick Disease
237.
Which of the glycogen storage diseases are most fatal?: Pompe's (II), Andersen's (IV)
238.
Which of the glycogen storage diseases is most common?: Von Gierke's (Type I)
239.
Which serum marker(s) might be elevated during biliary tree obstruction?: ALP, GGT
240.
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
241.
Which type of Osteogenesis Imperfecta is the mildest?: Type I
242.
Which type of Osteogenesis Imperfecta is the most common?: Type IV
243.
Which type of Osteogenesis Imperfecta is the most severe?: Type II
244.
While no cure is presently available for PDH diseases, what type of diet benefits some patients?: Low carbohydrate, high fat
