BIOCHEMISTRY WORD ASSOCIATION Leafy Vegetables Pyridoxine Niacin Pantothenate Vitamin K dependent factors Protein malnutrition, fatty liver,

big belly Location of Vitamin D conversion TTP FAD, FMN Stored in the liver PLP Keeps iron in Fe2+ form and absorption Chelilosis and Corneal Vascularization Energy malnutrition, muscle wasting, skinny as bones Deficiency causes macrocytic anemia WITH neurological problems Absorption dependent on the gut and pancreas Deficiency includes peripheral neuropathy Diarrhea, Dementia, and Dermatitis NADH/NAD+ ratio in liver Alcoholism Most common deficiency in US Cofactor in PPP Helps convert dopamine NE Vitamin A B6 B3 B5 II, VII, IX, X, protein C and S Kwashiokor PCT in kidneys Thiamine (B1) Riboflavin (B2) B12 (cobalamin and folate) Pyridoxine (B6) Vitamin C Deficiency caused by excessive raw egg consumption Abnormal myelin Green Leaves Coenzyme for 1 carbon transfers Synthesized only by bugs Excess seen in sarcodosis Inhibits gluconeogensis and hypoglycemia Malabsorption, lack of intrinsic factor, absence of terminal ileum Enzyme that activates vit D Deficiency causes scurvy Deficiency induced by INH and oral contraceptives Shunts away from glycolysis and toward fatty acid synthesis fatty liver Antioxidant Pellagra NAD+ is the limiting reagent Dermatitis, glossitis, and diarrhea Hydroxylation of proline and lysine in collagen syn. Important in synthesis of DNA and RNA Cobalamin

Biotin Vitamin B12 deficiency Folate Folate Vitamin B12 Cobalamin Vitamin D and calcium. Ethanol

Causes of vitamin B12 deficiency 1 hydroxylase Vitamin C Vitamin B6 Pyridoxine

Riboflavin deficiency

Marasmus

Vitamin B12 Cobalamin

Chronic alcoholism

Fat soluble vitamins

Vitamin E Vitamin B3 (niacin) deficiency In ethanol metabolism B-complex deficiencies Vitamin C

B6 (Pyridoxine) Pellagra Ethanol metabolism Thiamine deficiency Folate Thiamine B1 Vitamin C

Folate B12

BIOCHEMISTRY WORD ASSOCIATION NAD+ Macrocytic anemia WITHOUT neurological problems. INH depletes this Synthesized by intestinal flora Derived from tryptophan using vitamin B6 BeriBeri Constituent of CoA Wernicke-Korsakoff syndrome Niacin- B3 Folate deficiency B6- pyridoxine Vitamin K Niacin (B3) Vitamin B1 (thiamine) deficiency B5 (pantothenate) Vitamin B1 (thiamine) deficiency

NUTRITIONAL SECTION

Given to a newborn at birth to prevent Vitamin K hemorrhage Deficiency caused Biotin by antibiotic use Thiamine B1 Active form of Calcitriol (1,25 (OH)2 vitamin D D3 Schilling Test Vitamin B12 Catalyzes carboxylation of Vitamin K glutamic acid on blood factors Blocks vitamin K Warfarin Deficiency cause night blindness and Vitamin A dry skin Involves conversion of homocysteine Vitamin B12 methionine Reduces neural tube Folate defects

BIOCHEMISTRY WORD ASSOCIATION

MOLECULAR SECTION
The only histone NOT in the nucleosome core RNA Polymerases Substituting a purine for a purine or pyrimidine for pyrimidine 3 steps of translation Start codon also methionine Complex RNA Polymerase Amino acids necessary for purine synthesis DNA Polymerase I and III P site Specific glycosylases recognize and remove damaged bases, AP endonuclease cuts DNA at apyrimidinic site, empty sugar is removed More than 1 codon may code for the same aa Prevents repair of thymidine dimers 5 3- synthesis and proofreads with 3 5 exonuclease E site Less condensed, H1 I rRNA II mRNA III- tRNA I Ran 2 My 3 Trees Transition Initiation Elongation Termination AUG Prokaryotes GAG: Glycine, Asparate, and Glutamine Prokaryotic Accommodates growing Peptide

transcriptionally active chromatin Inhibits RNA polyermase II A site Unmethylated, newly synthesized string is recognized, mismatched nucleotides are removed snRNPs mRNA reads from .. Mismatch repair is mutated in this

- amanitin Incoming Aminoacyl tRNA

Mismatch repair

mRNA stop codon RNA Polymerases I, II, III Specific endonucleases release the oligonucleotidecontaining damaged bases Tm increases (melting increases) Substituting a purine for a pyrimidine or vice versa Condensed, transciptionally inactive chromatin Excises RNA primer with 5 3 exonuclease Each codon specifies only 1 aa

Involved in premRNA splicing 5 3 Hereditary nonpolyposis colorectal cancer (HNPCC) U Go Away UGA U Are Away UAA U Are Gone UAG Eukaryotes

Nucleotide excision repair With ed G-C content in DNA Transversion

Base excision repair

Degenerate/ redundant Mutation in xeroderma pigmentosum DNA polymerase III Holds empty tRNA as it Exits Euchromatin

Heterochromatin

DNA Polymerase I Unambiguous

CELLULAR SECTION

BIOCHEMISTRY WORD ASSOCIATION Inhibit G1 S progression Most commonly effected collagen in Ehlers-Danlos Caused by a defect in fibrillin Bone, tendon, skin, late wound healing collagen type Cross links to make collagen fibers Caused by excess elastase activity Permanent cells (stay in Go phase) Mechansim of the blue sclera ATPase that links peripheral 9 doublets of microtubules,causes bending of cilium What step in collagen synthesis is inhibited by scurvy? Collagen for granulation tissue and CT Vesicular trafficking protein trans Golgi lysosomes and plasma membrane endosomes Disease due to a microtubule polymerization defect in phagocytosis Blue Sclera Made of polymerized dimers of and tubulin Collagen on the BM Collagen disease Rb and p53 tumor suppressors Type III Marfans syndrome Type I Covalent lysinehydroxylysine Emphysema Cardiac and skeletal cells, neurons, RBCs Translucency of the CT over the choroid associated with berry anerysms Act like RER in neurons, synthesize of enzymes and peptide NTs Disease that results from an aa substitution of glycine cysteine that messes up 3x helix of procollagen Vesicular trafficking protein retrograde golgi ER Cartilage, hyaline, vitreous body, nucleus pulposus Immotile cilia due to a dynein arm defect that results in infertility, bronchiectasis, and recurrent sinusitis Failure of addition of mannose-6phosphate to lysosome proteins Site of steroid synthesis and detoxification of drugs and poisons Major component of RBC membranes, myelin, bile and surfactant Labile cells (never go Go, divide fast) Vesicular trafficking protein anterograde from RER Golgi Stable (quiescent) cells (G1 from Go when stimulated)

Nissl Bodies

Osteogenesis imperfecta

COPI

Type II

Dynein

Kartageners syndrome

Hydroxylation of proline and lysine residues Type III

I cell disease

SER

Clathrin

Phosphtidylcholine (Lecithin) Bone marrow, gut epi, skin, hair follicle COPII Ex. Hepatocytes, lymphocytes, etc

Chediak-Higashi Syndrome Osteogenesis imperfecta Microtubules Type IV Ehlers-Danlos

METABOLISM SECTION
Causes a backup of Alcoholism, pyruvate

BIOCHEMISTRY WORD ASSOCIATION pyruvate and alanine lactic acidosis Use anaerobic glycolysis ATPase inhibitor in ETC TCA Cycle components dehydrogenase deficiency RBCs, leukocytes, kidney medulla, lens, testes, and cornea Oligomycin Citrate Is Krebs Starting Substrate For Making Oxaloacetate Hexokinase/ glucokinase, phosphofructokinase Pyruvate kinase, pyruvate dehydrogenase, citrate synthase, isocitrate dehydrogenase, ketoglutarate dehydrogenase L amino acids Altered hemoglobin precipitates in RBCs Deficiency in hexosaminidase A accumulation of GM2 ganglioside Glutathione Ammonium in transported via two amino acids Complex I inhibitor in ETC Glutamate Rate determining enzyme for gluconeogenesis Amino acids that are ed in histones Galactosemia causes Glucokinase is used instead of hexokinase in these tissues Deficiency in sphinomyelinase accumulation of sphinomyelin Amino acids that are glucogenic Deficient in chronic granulomatous dx Deficiency in galactosidase A accumulation of ceramide trihexoside Alanine Rxn catalyzed by myeloperoxidase

Heinz bodies

Tay-Sachs disease

PPP shunt Alanine and glutamate Rotenone -ketoglutarate Fructose 1,6 bisphophatase Arginine and Lysine Cataracts, hepatosplenomegaly mental retardation Liver and cells of pancreas

Irreversible enzymes

Form of amino acids found in proteins Rate determining enzyme for de novo pyrimidime synthesis Asparate Uncoupling agents NADPH is used in these three processes Absence of galactose-1-p uridyltransferase Retardation, selfmutilation, aggression, gout Conversion of homocysteine to methionine uses this cofactor

Aspartate transcarbamylase Oxalacetate 2,4-DNP, aspirin, thermogenin in brown fat, alcohol 1. Anabolic 2. Respiratory burst 3. P-450 Galactosemia build up of toxic galactitol Symptoms of LeschNyhan Syndrome

Niemann-Pick disease Methionine, Valine, Arginine, Histidine NADPH oxidase

Fabrys disease

Vitamin B12

Pyruvate H202 + Cl HOCl* (bleach)

BIOCHEMISTRY WORD ASSOCIATION availbalility of phosphate Rate determining enzyme for de novo purine synthesis Ms that look like crumpled tissue pp Cannot participate in gluconeogenesis GLUT 4 receptors Brain and heart Antimycin A Glucokinase NOT hexokinase RBCs, Brain This is the product of the PPP shunt glycogen in muscle, but cannot break it down painful cramps, myoglobinuria with strenuous exercise Without reduced glutathione, you cant convert what Hemolytic anemia seen in this deficiency Deficiency in arylsufatase A accumulation of cerebroside sulfate Mechanism of hemolytic anemia caused by G6PD deficiency Rate determining enzyme for TCA cycle Congenital deficiency of homogentisic acid oxidase in degradation of Glutamine-PRPP amidotransferase

Dont need insulin for glucose uptake Deficiency in glucocerbrosidase accumulation of glucocerebroside Rate determining enzyme for glycogen synthesis Ketone bodies are used by what in starvation Complex III inhibitor in ETC Inducible by insulin GLUT 1 Receptors Deficiency in galactocerebrosid as accumulation of galactocerebrosid e Congential defect in tyrosinase so cant tyrosine melanin or defective tyrosine transporter Rxn catalyzed by superoxide dismutase Cherry red spots, lysosomes with onion skin, neurodegeneratio n Has variable inheritance due to locus heterogeneity Deficiency in aldose B causes

BRICK L Brain, RBC, Intestine, Cornea, Kidney, Liver Gauchers disease (most common lysosomal disease)

Gauchers cells Muscle cells (only liver, kidney, and epi cells can) Fat and muscle (respond to insulin) NADPH

Glycogen synthase

McArdles disease (type V GSD)

Krabbes disease

H202 2H20

G6PD deficiency

Albinism

Metachromatic leukodystrophy in NADPH poor defense mechanisms to oxidizing agents Isocitrate dehydrogenase

O2* H2O2

Tay-Sachs disease

Albinism Fructose-1-P to build up and in

Alkaptouria

BIOCHEMISTRY WORD ASSOCIATION tyrosine Tyrosine makes these Complex IV inhibitor in ETC Products of tryptophan Central and peripheral demyelination with ataxia, dementia Progressive neurogeneration, cherry-red spot on macula, hepatosplenomeg, foam cells Transketolases require this coenzyme Location of FFA synthesis The porphyrin ring of heme is made from this amino acid Negative feedback at rate-limiting step of glycolysis Ketone body not detected in the urine GLUT 2 Receptors Rate determining enzyme for glycolysis Deficiency in McArdles disease Made from Phenylalanine Positive feedback for rate limiting step of glycolysis Delivers triglycerides to peripheral tissues and delivers cholesterol to back to liver in remnants Product of histidine Essential fructosuria is a defect in Negative feedback at first step of glycolysis Lipoprotein that is secreted by intestinal epi cells Complex dehydrogenases In a fasting state when you need glucose Result of phagocytic removal of Heinz bodies by Ms Causes of hemolytic anemia in G6PD deficient patients The most potent activator of phosphofructokina s Location of FFA degradation The only pure ketogenic amino acids Rate determining enzyme for Glycogenolysis Chylomicron

Thyroxine, Melanin, Dopamine, NE, Epi CO, CNNiacin, serotonin

Chylomicrons

Histamine Fructokinase

Metachromatic keukodystrophy

Glucose 6-P

Niemann-Pick disease

Chylomicrons Pyruvate and ketoglutarate Enzyme - Fructose bisphophatase 2 Converts fructose-2.6bisphosphate fructose 6-P glucose Bite cells Fava beans, sulfonamides, primaquine, anti-TB drugs F2,6 BP

Vitamin B1 Cytoplasm

Glycine

ATP, citrate -hydroxybutyrate cells, liver, kidney Phosphofructokinase 1 Skeletal muscle glycogen phosphorylase Tyrosine AMP, fructose 2,6-BP

Mitochondria Lysine and Leucine Glycogen phosphorylase B-48, A-IV, C-II, E

BIOCHEMISTRY WORD ASSOCIATION apolipoproteins Type of fatty acid that can serve as a glucose source Mediates reverse cholesterol transport. Acts as a repository for apoC and apoE Activated carrier for aldehydes LDL apolipoproteins Rate determining enzyme for urea cycle Deficient enzyme in Coris Disease Glutamate Activated carrier for electrons Gluconeogenesis starts with what Blocked degradation of branched amino acids (Ile, Val, Leu) Negative feedback for pyruate acetyl CoA in glycolysis Rate determining enzyme for fatty acid synthesis Disease caused by the absence of HGPRT In an active fed state when you need to breakdown glucose Cofactors for pyruvate and -KG DH complex Odd-chain fatty acids that yield 1 propionylCoA Glucose 6phosphatase deficiency resulting in accumulation of excessive glycogen Black urine and dark CT Negative feedback at PEP pyruvate in glycolysis Adenosine deaminase deficiency can cause this Positive feedback for PEP pyruvate in glycolysis Rate determining enzyme for heme synthesis Milder form of type 1 GSD with normal blood lactate levels Delivers hepatic cholesterol to peripheral tissues. Taken up by target cells by endocytosis Activated carrier CO2 Converts hypoxanthine IMP and guanine GMP Staghorn calculi FAD B2 NAD B3 CoA B5 Lipoic acid

HDL

Von Gierkes Disease

TPP B-100 Carbamoyl phosphate synthase I Debranching enzyme -1,6 glucosidase GABA, Glutathione NADH, NADPH, FADH2 Pyruvate oxalacetate in mito then PEP in cytosol Maple Syrup Urine Disease

Alkaptonuria

ATP, alanine

SCID prevents DNA synthesis lymphocytes

Fructose 1,6 BP

ALA synthase

Coris disease (type III GSD)

ATP, NADH, acetylCoA Acetyl-CoA carboxylase Lesch-Nyhan Syndrome Enzyme phosphofructokinase 2 converts fructose 6P Fructose2,6-P which is a POTENT activator of PFK-1 Pyrophosphate B1; TPP

LDL

Biotin

HGPRT Ammonium magnesium phosphate kidney stones

BIOCHEMISTRY WORD ASSOCIATION Activated carrier for CH3 groups Severe fasting hypoglycemia, glycogen in liver, blood lactate, hepatomegaly. Arginine Rate determining enzyme for Fatty acid oxidation Lipoprotein that is secreted by both liver and intestine in phenylalanine hydroxylase so cant tyrosine What is ed in hyper cholesterolemia (Type IIa familial dyslipidemia) GSD that results in cardiomegaly and systemic findings early death Delivers hepatic triglycerides to peripheral tissues Activated carrier for 1-carbon units Activated carrier for acyl Lipoprotein that is secreted by the liver Oxidized form of Hb has affinity for CN VLDL apolipoprotein Treatment of jaundice newborns Rate determining enzyme for ketogenesis Deficient enzyme in Pompes disease Activated carrier for phoshoryl Deficient enzyme in Von Gierkes Dx IDL apolipoproteins phenylalanine and tyrosine consumption (no diet pops!) Rate determining enzyme for cholesterol synthes Gives bruises their blue green color Lipoprotein lipase deficiency or altered apolipoprotein C-II in LDL receptors Microlytic hypochromic anemia pathology What is ed in type IV familial dyslipidemia (hypertriglyceridemia)

SAM

Methemoglobin B-100, C-II and E Exposure to UV light converts bilirubin urine-soluble products HMG-CoA synthase Lysosomal 1,4glucosidase ATP Glucose-6phosphatase B-100 and E

Von Gierkes disease (type 1 GSD) Creatine, Urea, NO Carnitine acyltransferase I HDL

PKU

LDL with elevated levels of cholesterol in the blood

PKU

Pompes disease (type II GSD)

HMG-CoA reductase

VLDL Tetrahydrofolates Coenzyme A, lipoamide VLDL Use nitrites to oxidize Hb to MetHb which will bind CN- then use thiosulfate to bind this CN forming thiocyanate which is renally excreted T (tense)

Biliverdin Hyperchylomicronemia (familial) Type IIa familial dyslipidemia - hyper cholesterolemia Underproduction of heme

Treatment for CNpoisoning

Form of Hb that has low affinity for O2

VLDL and TG is elevated in the blood.

BIOCHEMISTRY WORD ASSOCIATION Vitamin needed B6 for heme synthesis Hepatic overload Hypertriglycerid-emia of VLDL (familial) Formed in the degradation of VLDL. Delivers TGL and cholesterol to IDL liver, where they are degraded to LDL Rate determining Glucose-6-phosphate enzyme for PPP dehydrogenase Shunt What is ed in Chylomicrons with TG type I familial dyslipidemia and cholesterol ed in (hyperchylothe blood micronemia) Musty body odor Aromatic amino acid in PKU due to metabolism disorder Form of Hb af R (relaxed) O2 Familial Hypercholesterolemia Trisomy __ for Pataus syndrome MR, obesity, hypogonadism, hyptonia Polydactyly Bilateral absence of vas deferns in males Fragile X Differences in phenotype depend on whether mutation is from mom or dad suspectibility to other tumors -hCG Neurofibromatosis type 2 2nd most common cause of genetic mental retardation Always bilateral due to a mutation in APKD1 Example of locus heterogeneity Triple repeat disorder (CGG) may show genetic anticipation G6PD Deficiency Trisomy __ for Edwards syndrome Example of anticipation 95% meiotic nondisjunction Brutons agammaglobulinemia Autosomal recessive defect in CFTR gene Neurofibromatosis

AD 13 (Puberty) Pader-Willi syndrome (paternal active deletion) Pataus syndrome Cystic fibrosis X-linked recessive Imprinting Neurofibromatosis type 1 Prenatal screening for Down Syndrome AD Fragile X Adult Polycystic Kidney Disease Albinism

BIOCHEMISTRY - GENETICS
Marfans syndrome Location of CFTR gene Presence of both normal and mutated mtDNA variable expression in mitochondrial inherited diseases Trisomy __ for Down Syndrome X-linked recessive disorders AD Ch 7

Heteroplasmy

Fragile X X-linked recessive 18 (Election age) Huntingtons disease Genetics of down syndrome X-linked recessive Cystic fibrosis AD

21 Be Wise Fools GOLD Heeds False Hope Huntingtons disease, myotonic dystrophy, Friedreichs ataxia, fragile X. Mosaicism

Trinucleotide repeat expansion diseases Occurs when cells in body have different genetic makeup

BIOCHEMISTRY WORD ASSOCIATION type I Ocular albinism Adult Polycystic kidney disease Clenched hands Wiskott-Aldrich syndrome Simian crease Mutations at different loci can produce the same phenotype -fetoprotein Prader-Willi syndrome paternal Chromosomal inversion that involves the centromere and proceeds through meiosis Bilateral acoustic neuroma Space btn first 2 toes Ash leaf spots on skin Fabrys Disease Associated with polycystic liver, berry aneurysms, and mitral valve prolapse Severity of disease worsens/age of onset is earlier in succeeding gener. Fibrillin gene mutation CT dxs Frame-shift mutation deletion of dystrophin gene Location of APC gene for familial adenomatous polyposis Septum primum-type ASD due to endocardial cushion defects Example of incomplete penetrance nuchal translucency Reason for pseudohypertrophy of calf muscles Hemophilia A and B Chromosomal inversion that does

X-linked recessive AD Edwards syndrome X-linked recessive Down Syndrome Locus heterogeneity Prenatal screening for Down Syndrome N-acetylcysteine to loosen mucous plugs Edward and Pataus syndrome Angelmans Syndrome (maternal active deletion) ALL, Alzheimers > 35 Lyonization Ch. 22 Down Syndrome Familial hypercholesterolemia p 2 + 2pq + q2 = 1 p+q=1 Fragile X Ch. 17 Angelmans Syndrome mom

Pericentric

Neurofibromatosis type 2 Down Syndrome Tuberous sclerosis X-linked recessive Adult Polycystic Kidney Disease

Treatment of CF

Rocker bottom feet

Anticipation

MR, seizures, ataxia, inappropriate laughter, HAPPY PUPPET Disease risks for Down Syndrome Random X inactivation in females Location of NF2 gene Most common cause of genetic retardation Due to defective or absent LDL receptor Hardy-Weinberg equation Long face with a large jaw Gene location of Neurofibromatosis type 1 mutation Examples of imprinting

Marfans syndrome Duchennes Muscular Dystrophy Ch 5

Down Syndrome

Tuberous sclerosis Prenatal screening for Down Syndrome Fibrofatty replacement of muscle X-linked recessive Paracentric

BIOCHEMISTRY WORD ASSOCIATION not involve the centromere and does not proceed through meiosis Huntingtons disease Congenital defect in short arm of ch 5 Large everted ears Hemangioblastomas of retina/cerebellum / medulla Hunters Syndrome DiGeroge Syndrome Pseudohypertrophy of calf muscles Bilateral renal cell carcinomas Caf au lait spots, neural tumors, Lisch nodules Defect of fibroblast growth factor (FGF) receptor 3 Hereditary spherocytosis Adenoma sebaceum Weakness in pelvic girdle muscle and progresses superiorly Pheochromocytoma Lesch-Nyham syndrome Duchennes muscular dystrophy APKDI gene location Familial Adenomatous Polyposis Location of VHL gene Deletion of VHL gene (tumor suppressor) Tuberous sclerosis X linked defect affecting methylation and expression of FMR1 gene Achondroplasia Mutated dystrophin gene DiGeorge Syndrome Gene location for Huntingtons disease Gowers maneuver von Hippel-Lindau disease Macro-orchidism Triplet repeat disorder that levels of GABA and Ach in brain Diagnosis of Duchennes Muscular Dystrophy

AD Cri-du-chat syndrome Fragile X von Hippel-Lindau disease X-linked recessive No thymus Duchennes Muscular Dystrophy von Hippel-Lindau disease Neurofibromatosis type 1 Achondroplasia AD Tuberous sclerosis Duchennes Muscular Dystrophy Neurofibromatosis type 1 X-linked recessive X-linked recessive Ch. 16 AD Ch. 3 von Hippel-Lindau disease AD Fragile X

AD Beckers Muscular Dystrophy 22q11 Ch 4 Duchennes Muscular Dystrophy AD Fragile X Huntingtons disease CPK and muscle biopsy