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 |