BIOCHEMISTRY Flashcards

6750300535	Purine	PRPP Plus THF, CO2, GLY, GLU	0
6750311325	Ribavarin Mycophenylate	Inhibits IMP -> GMP conversion	1
6750316594	HGPRT	Enzyme lacking in Lesch Nyhann	2
6750321722	XO	Enzyme for conversion of Hypoxanthine to Xanthine	3
6750329796	Pyrimidine	GLU + CO2 -> Carbamoyl Phosphate -> Orotic Acid Orotic Acid + PRPP	4
6750333397	Orotic Aciduria	Disease due to inhibition of pyrimidine synthesis...UMP synthase lacking	5
6750341413	Thymidylate Synthase	Enzyme blocked by 5FU	6
6750346262	MTX TMP Pyramethamine	Drugs that block DHF Reductase	7
6750348506	B12	This catalyzes: Homocystine->Methionine N5M THF -> THF	8
6750355523	GLUT1	Insulin independent glucose transporter in the brain	9
6750355524	GLUT4	Insulin dependent glucose transporter in the fat/muscle	10
6750359849	GLUT2	Insulin independent glucose transporter that is bi-directional - intestine, liver, pancreas	11
6750365455	GLUT 5	Glucose transporter for fructose	12
6750369602	Cytoplasm	Location of Glycolysis	13
6750374705	Cytoplasm	Location of FA Synthesis	14
6750376445	Cytoplasm	Locatino of HMP SHunt	15
6750376446	Mitochondria	Location of FA Oxidation	16
6750378977	Mitochondria	Location of TCA cycle	17
6750378978	Mitochondria	Location of Ketogenesis	18
6750382268	Heme Synthesis Urea Cycle Gluconeogenesis	Pathways that occur in both the cytoplasm and mitochondria	19
6750390500	Lysosomal Alpha 1,4 Glucosidase	Enzyme deficiency in Pompe Disease	20
6750392913	G6 Phosphatase (liver)	Enzyme deficiency in Von Gierke	21
6750397891	Debranching Enzyme	Enzyme deficiency in Cori Disease	22
6750401575	Glycogen Phospholylase (Muscle)	Enzyme deficiency in McArdle Disease	23
6750401576	Von Gierke	Fasting w/o Gluconeogenesis Fasting Hypoglycemia Hepatomegally Lactic Acidosis	24
6750408460	Pompe Disease	Normal Blood Glucose Large Tongue Heart Failure Death in Infancy/childhood	25
6750413622	Cori Disease	Mild Fasting Hypoglycemia Cardiomyopathy Hepatomegally Hypotonia	26
6750416936	McArdle	High glycogen in muscle Cramping w/ exercise Normal blood glucose	27
6750422865	Fructokinase	Cause of essential fructosuria (benign fructose in urine)	28
6750425726	Aldolase B	Cause of hereditary fructose intolerance	29
6750428579	Hereditary Fructose Intolerance	No Gluconeogenesis No Glycogen Breakdown Post-Meal S/S Hypoglycemia Vomiting Hepatosplenomegally Ketosis Lactic Acidosis Normal Eyes	30
6750437719	G1P Uridyltransferase	Cause of Classic Galactosemia	31
6750440281	Classic Galactosemia	No Gluconeogenesis No Glycogen Breakdown Post-Meal S/S Hypoglycemia Vomiting Hepatosplenomegally Ketosis Lactic Acidosis Cataracts	32
6750447360	Arsenic	Inhibits Lipoic Acid Block Pyruvate Dehydrogenase Garlic Smell	33
6750451432	PDH Deficiency	Increased Lactate Increased Alanine X Linked Tx - low carb high fat diet	34
6750459721	Malate	This brings NADH electrons from the cytosol to the mitochondria	35
6750462283	Complex I	ETC location of NADH Dehydrogenase	36
6750465350	Complex II	ETC location of Cuccinate Dehydrogenase (FADH2 enter)	37
6750467960	Complex IV	ETC location of H20 Generation	38
6750475264	Transketolase	Enzyme that converts Ribose 5P to Ribulose 5P	39
6750478348	NADPH	This is required for FA Synthesis and respiratory burst	40
6750481339	NADPH Oxidase Deficiency - CGD	Enzyme responsible for converstion of O2 to free radical oxygen	41
6750487181	SOD	Enzyme for conversion of free radical O2 to H2O2	42
6750489023	X linked	Inheritance of G6PD Deficiency	43
6750494641	Staph Aureus Pseudomonas Serratia Nocardia Aspergillus	Bugs in CGD	44
6750499922	Carnitine	Deficiency in this prevents movement of Fatty Acyl CoA's into the mitochondria	45
6750506158	MCAD	Deficiency in this leads to high acyl carnitine and decreased blood glucose	46
6750510675	ODD CHAIN FA AA Cholesterol	These molecules are converted into propinoyl coA and brought into the TCA via conversion to methylmalonyl CoA	47
6750520172	Propinoyl CoA Acidemia Methylmalonic Acidemia	AG Acidosis High NH3 Vomiting Hypotonia	48
6750521779	Fabry Disease	Alpha Galactosidase A Deficiency Buildup of Ceramides	49
6750523950	Fabry Disease	Slowly progressive disease Hand/Foot Neuropathy Angiokeratomas Renal Failure Hypertrophic CM	50
6750527729	Gaucher Disease	Glucocerbrosidase Deficiency Buildup Glucocerebrosides	51
6750530337	Gaucher	Hepatosplenomegally Pancytopenia Bruising Avascular Necrosis Bone Crisis	52
6750532768	Gaucher Cell	Disease	53
6750535350	Nieman Pick	Shingomyelinase Deficiency	54
6750537369	Nieman Pick	Neuro Degeneration Cherry Red Spot Hepatosplenomegally	55
6750537370	Tay Sachs	Neuro Degeneration Cherry Red Spot Lysosome w/ Onion Skinning	56
6750541184	Krabbes	Galactocerebrisidase Deficiency	57
6750543141	Tay Sachs (Buildup GM2 Gangliosides)	Hexosaminidase A Deficiency	58
6750546050	Metachomatic Leukodystrophy	Arylsulfatase A Deficiency	59
6750549518	Metachomatic Leukodystrophy	Ataxia Hypotonia Dementia Lysosomal Storage Disease	60
6750552020	B100	Signal necessary for binding to LDL receptor	61
6750556045	C2	Singal necessary for activation of LPL	62
6750557912	B48	Signal necessary for release of chylomicron from enterocyte	63
6750562998	Hyper-Chylomicronemia	Disease due to LPL deficiency or bad APOC2	64
6750564756	HyperCholesterolemia	AD disease due to decreased LDL Receptors	65
6750570984	Alcohol Dehdydrogenase	Enzyme that converts ethanol to acetylaldehyde	66
6750574919	Phenylalanine	AA from which tyrosine is made	67
6750578643	DOPA Dopamine/NE/EPI Melatonin Thyroxin	Products of tyrosine	68
6750583279	Monoamines	Breakdown product of this is HMA/VMA	69
6750585750	Breakdown product of tyrosine	What is homogentisic acid?	70
6750590477	Buildup of Homogentisitc Acid Dark urine Arthritis Brown sclarae/cartilage	Alkaproteinuria	71
6750593474	Tryptophan	Precursor AA for 5HT and Niacin	72
6750596836	5HT breakdown product	What is 5HIAA	73
6750601306	Loss of tryptophan in urine leading to niacin deficiency (pellegra)	What is Hartnup Disease	74
6750604866	NO Synthesis Creatinine Urea Cycle	What is arginine used for?	75
6750608240	Maple Syrup Urine Disease	Alpha Ketoacid Dehydrogenase deficiency	76
6750610248	Homocystinuria	Lens Dislocation Long Arms/Legs Chest Wall Abnormalities Blood Clots Decreased Folate/B12	77
6750619933	OTC Deficiency	High NH3 Seizure Somnolence N/V High Orotic Acid	78
6750622305	B1 - Thiamine	Deficiency in this leads to Beri Beri	79
6750635255	B2 - Riboflavin	Deficiency in this leads to dermatitis, glossitis, cheilitis, corneal vascularization	80
6750638002	B3 - Niacin	Deficiency in this leads to diarrhea, dermatitis, dementia	81
6750642999	Niacin - B3	This is decreased w/ isoniazid use and hartnup disease	82
6750646086	B6 - Pyridoxime	This is used as a cofactor for aminotransferases, NT synthesis, histamine synthesis, glycogen breakdown, B3 synthesis, and heme synthesis	83
6750660748	Vitamin A	Deficiency in this can cause night blindness, keratization of cornea, and squamous metaplasia	84
6750664226	Vitamin D	OD of this can cause dry skin and liver toxicity	85
6750666886	Vitamin C	This is important for collagen sytehsis, dopamine synthesis, and iron absorption (convert FE+ to FE3+)	86
6750671501	Vitamin D	This vitamin increases with sarcoidosis	87
6750674673	Vitamin E	This is an antioxidant that, when deficient, leads to ataxia, loss of proprioception, and weakness	88
6750680335	Vitamin K	This vitamin is given at birth	89
6750682021	Zinc	Deficiency in this causes poor wound healing, immune dysfunction, hair loss, and anosmia	90
6750701076	Adenosine Deaminase (SCID cause)	This enzyme is important for DNA synthesis...loss will cause low lymphocyte count	91
6750711298	DNA POL 1	Degrades RNA Primer Replace w/ DNA	92
6750715372	DNA POL 3	Elongation of leading strand	93
6750730524	1. GTP -> 40S + tRNA 2. mRNA and 60S	Initiation of protein synthesis	94
6750741576	G1->S	Job of p53	95
6750744155	G1->S	Job of phosphorylated RB	96
6750747191	Rough ER	Site of addition of N-linked oligosaccharides to proteins	97
6750749250	Smooth ER	Site of steroid synthesis	98
6750750944	Lysosome	What does a mannose 6 phosphate tag added in the Golgi lead to	99
6750756355	Golgi	Where are O-oligosaccharides added	100
6750761296	I cell Disease	Defect in ability of golgi to phosphorylate mannose residues - cannot tag w/ Mannose 6 Phosphate leading to secretion of proteins rather than lysosomal destruction	101
6750770421	I cell Disease	Coarse Facial Features Clouded Cornea Restricted Joints High plasma lysosomal levels	102
6750773607	COPI	Signals Golgi to ER Trafficking	103
6750775844	Clathrin	Golgi -> Lysosome Plasma Membrane -> Endosome	104
6750781338	Peroxisome	Catabolism of very long chain FA	105
6750787175	Proteosome	Degrades ubiquitin tagged proteins	106
6751027306	Actin	Microfilaments are composed of what?	107
6751030606	Intermediate Filaments	Vimentin, Desmin, Lamins, GFAP make up what?	108
6751032766	Microtubules	Cilia, Flagella, Mitotic Spindle, Centrioles make up what?	109
6751034963	CT	Tissue from which Vimentin is found	110
6751034965	Muscle	Tissue from which Desmin is found	111
6751037574	Epithelial Cells	Tissue from which Cytokeratin is found	112
6751040151	Nueroglia	Tissue from which GFAP is found	113
6751043094	Dynein	Retrograde movement in microtubule	114
6751043095	Kinesin	Anterograde movement in microtubule	115
6751051001	Type I	Collagen Tendon	116
6751051002	Type I	Collagen Late wound repair	117
6751053920	Type I	Collagen Dentin/Fascia	118
6751053921	Type II	Collagen cartilage	119
6751056886	Type II	Collagen Nucleus Pulposus	120
6751060801	Type III	Collagen Uterus and Fetal Tissue	121
6751060802	type III	Collagen granulation tissue	122
6751062881	Type IV	Collagen BM	123
6751062882	Type IV	Collagen Lens	124
6751068068	Glycine	Collagen is composed 1/3 of this?	125
6751069906	Vitamin C	What is required for RER Collagen Hydroxylation	126
6751072263	OI	Defect in glycosylation of collagen	127
6751082257	Collagen Fibrils DEFECT - ED and Menkes Disease	Covalent lysine-hydroxylysine cross-linking via copper containing lysyl oxidase makes what?	128
6751091306	Menkes Disease	X Linked Imparied copper absorption Decreased lysyl oxidase (copper cofactor) MR, Hypotonia, Brittle Hair	129
6751095868	Elastin	Protein rich in nonhydroxylated proline, glycine and lysine	130
6751102565	Marfan (defect in fibrilin)	Defect in a glycoprotein that forms the sheath around elastin	131
6751108182	Southern	Blot for DNA	132
6751108183	Norther	Blot for RNA	133
6751108184	Western	Blot for Protein	134
6751111234	Microarray	Nucleic aid sequences on grid DNA/RNA probe hybridized to chip Scanner detects complementary binding	135
6751116806	Microarray	Test for SNP for genetic testing, cancer mutation, genetic linkage	136
6751119820	ELISA	Test to detect presense of specific antigen or AB in blood - especially for HIV	137
6751126606	Heteroplasmy	Presense of both normal and mutated mitochondrial DNA	138
6751129883	McCune Albright	Mosaicism Disease G-protein signaling Cafe Au Lait Polyostotic Fibrous Dysplasia Preccoious Puberty	139
6751140848	Loss of Heterozygosity	Patient inherits or develops a mutation in tumor suppressor, the complementary allele must be deleted/mutated before cancer	140
6751144372	Pleiotropy	One gene contributes to multiple phenotypic effects (i.e. PKU causes MR, must odor, light skin)	141
6751163491	Hereditary Hemorrhagic Telangiectasia	Epistaxis AVM GI Bleed	142
6751167166	CAG CH 4	Chromosome/Repeat Huntingtons	143
6751175774	Cystic Fibrosis	Deletion of PHE508	144
6751175775	ATP Gated Cl Channel Cl into Lungs/GI Absorb Cl in Sweat	CFTR Codes for what	145
6751184975	Na reabsorption	What causes the negative transepithelilal potential difference in CF	146
6751192036	No vas deferens	Cause of infertility in CF	147
6751197959	Frameshift deletion Dystrophin X Linked	Cause of Duchenne	148
6751204054	Connect actin to trannsmembrane protein that are linked to ECM	Job of dystrophin	149
6751204055	Becker	Non-frameshift mutation dystrophin at early adulthood	150
6751209117	Myotonic Dystrophy Type I	AD CTG Repeat expansion DMPK Myotonia Cataracts Frontal Balding Arrhythmia Testicular Atrophy	151
6751221311	Edwards (18)	MR Rocker Bottom Feet Micrognathia Clenched Hands heart Disease Decreased AFP	152
6751224715	Patau (13)	Cleft Lip Holoprosencephaly Microcephaly Rocker Bottom Feet MR	153
6751236753	Hexokinase Most Body Cells	1st Glycolytic Enzyme Low Km and Low Vmax No insulin effect	154
6751243028	Glucokinase Liver/Beta Cells	1st Glycolytic Enzyme High Km and Vmax Insulin Induced	155
6751252473	Complex V	Location of ATP oxidative phosphorylation in the ETC	156
6751254814	Complex IV	Location of CN/CO action in the ETC	157
6751289756	MOA - Block Complex IV TX - Nitrites convert FE2+ to FE3+ which bind CN		158