I - Biochemistry Flashcards
Negative logarithm of hydrogen ion concentration
pH (Body pH 7.35-7.45)
Any substance that resists a change in pH when protons are produced or consumed
Buffer
Chemical compound that has a total net charge of zero
Zwitterion
pH at which the zwitterion is the predominant form of a chemical compound
Isoelectric pH (pI)
Between a water molecule and another polar compound
Hydrogen bond (partially positive)
Between glucose and galactose in lactose
Glycosidic bond
Primary bond of glucosyl residues in glycogen
a (1-4) glycosidic bond
Branching bond of glucosyl residues in glycogen
a (1-6) glycosidic bond
Between glycerol and its fatty acids
Ester bond
Between serine and alanine in a protein
Peptide bond (partial double bond)
Between two cysteine residues in cystine
Disulfide bond
Between ribose and adenine in adenosine monophosphate
B-N glycosidic bond
Between nucleotides on a DNA strand
Phosphodiester bond
Between C-G and A-T base pairs on DNA
Hydrogen bond
This equation is used to calculate the concetration of a weak acid and its conjugate base
Henderson-Hasselbalch Equation
This equation describes how a reaction velocity varies with substrate concentration
Michaelis-Menten Equation
This is a double reciprocal plot used to calculate Km and Vmax as well as to determine the mechanism of action of enzyme inhibitors
Lineweaver-Burke Plot
Explains how the free energy generated by the transport of electrons by the ETC is used to produce ATP from ADP + Pi
Mitchell Chemiosmotic Hypothesis
Accepts H+ ions
Base
Donates protons
Acid
pKa below 7
Acid
pKa above 7
Base
Glycogen
Carbohydrate
cAMP
Nucleic acid
Collagen
Protein
Palmitate
Lipid
Inosine monophosphate
Nucleic acid
Sorbitol
Carbohydrate
Vitamin A
Lipid
Insulin
Protein
Substrate concentration at which the reaction velocity is equal to 1/2 Vmax
Michaelis constant (Km)
Maximal velocity of an enzyme-catalyzed reaction
Vmax
The structure of the inhibitor resembles the substrate
Competitive inhibition
Vmax is lowered
Competitive inhibition
Km does not change
Noncompettive inhibition
Affinity of enzyme to the substrate is decreased
Competitive inhibition
The inhibitor and the substrate bind at different sites on the enzyme
Noncompettive inhibition
Malathion’s effect on acetylcholinesterase
Noncompettive inhibition
Simvastatin’s effect on HMG-CoA reductase
Competitive inhibition
What is the formula for standard free energy?
delta G=delta H-delta S
Measure of energy available to do work
delta G
Measure of randomness
Entropy (delta S)
Measure of heat released or absorbed during a reaction
Enthalpy (delta H)
Free energy change under standard conditions (reactants and products at 1mol/L)
Standard free energy change (delta G o)
Give the two ways in which your cells produce ATP
Oxidative phosphorylation, substrate level phosphorylation
Endergonic reaction
Positive
Energy of the products is less than the energy of the reactants
Negative
Exothermic reaction
Not enough data
Spontaneous reaction
Negative
Rate of formation of products is the same as the rate of formation of reactants
Zero
Anaerobic glycolysis
Substrate level phosphorylation
Electron transport chain
Oxidative phosphorylation
NADH and FADH2 from TCA
Oxidative phosphorylation
GTP from TCA
Substrate level phosphorylation
Requires oxygen
Oxidative phosphorylation
Only method of ATP production for RBCs
Substrate level phosphorylation
Entry point for NADH
Complex I
Entry point for FADH2
Complex II
Generation of proton gradient
Complexes I, III, and IV
ATP production by oxidative phosphorylation
Complex V
Aspirin, Thermogenin
Uncoupler
Amytal
Complex I
Oligomycin
Direct inhibition of ATP synthase
Carbon monoxide, cyanide, hydrogen sulfide
Complex IV
Dimercaprol
Complex III inhibitor
Maltose
Disaccharide
Mannose
Monosaccharide
Cellulose
Polysaccharide
Lactose
Disaccharide
Sorbitol
Monosaccharide
Glycogen
Polysaccharide
a-D-fructose and B-D-fructose
Anomers
Galactose and mannose
Isomers
Glucose and mannose, glucose and galactose
Epimers
D-Galactose and L-Galactose
Enantiomers (Optical Isomers)
Requires insulin
Glut 4
Brain and RBC
Glut 1
Liver and Pancreas
Glut 2
Absorption of fructose in small intestine by facilitated diffusion
Glut 5
Adipose tissue, skeletal muscle, and cardiac muscle
Glut 4
Brain, kidney, placenta
Glut 3
Conversion of glucose to 2 molecules of either pyruvare or lactate
Glycolysis
Production of glucose from precursors such as lactate, glycerol, glucogenic amino acids, intermediates of glycolysis and TCA cycle
Gluconeogenesis
Synthesis of storage form of carbohydrates fro UDP-glucose
Glycogenesis
Retrieval of glucose from its storage form
Glycogenolysis
Produces NADPH, ribose 5P, and provides a mechanism for metabolic use of 5C sugars
Pentose-Phosphate Pathway (HMP) [No energy required nor produced)
Final common pathway for the aerobic oxidation of carbohydratesm lipids, and proteins
Tricarboxylic acid cycle
Reduced coenzymes NADH and FADH2 each donate a pair of electrons to a specialized set of electron carriers
Electron transport chain
Glycogenesis
Anabolic
Krebs cycle
Amphibolic
Beta-oxidation
Catabolic
Embden-Meyerhof Pathway
Catabolic
Conversion of pyruvate to alanine
Anabolic
Glycolysis (Rate-limiting enzyme)
Phosphofructokinase 1
Gluconeogenesis (Rate-limiting enzyme)
Fructose 1,6-bisphosphatase
Glycogenesis (Rate-limiting enzyme)
Glycogen synthase
Glycogenolysis (Rate-limiting enzyme)
Glycogen phosphorylase
Hexose-monophosphate shunt (Rate-limiting enzyme)
Glucose-6-phosphate dehydrogenase
TCA cycle (Rate-limiting enzyme)
Isocitrate dehydrogenase
Lipogenesis (Rate-limiting enzyme)
Acetyl CoA carboxylase
Lipolysis (Rate-limiting enzyme)
Carnitine palmitoyl transferase I (Carnitine acyl transferase I)
Ketogenesis (Rate-limiting enzyme)
HMG CoA synthase
Cholesterol synthesis (Rate-limiting enzyme)
HMG CoA reductase
Bile acid synthesis (Rate-limiting enzyme)
Cholesterol 7-a-hydroxylase
Steroid hormone synthesis (Rate-limiting enzyme)
Desmolase
Urea cycle (Rate-limiting enzyme)
Carbamoyl Phosphate Synthetase I
Heme synthesis (Rate-limiting enzyme)
ALA synthase
De Novo Purine synthesis (Rate-limiting enzyme)
Glutamine PRPP Aminotransferase
De Novo Pyrimidine synthesis (Rate-limiting enzyme)
Carbamoyl Phosphate Synthetase II
Where glycolysis occurs
All cells
Where glycogen synthesis occur
Liver and muscle
Where gluconeogenesis occur
Liver and kidney
Ketogenesis occurs where?
Liver
Urea cycle occurs where?
Liver
Electron transport chain occurs where?
All cells where Mitochondria is present and oxygen is abundant
Hexose monophosphate shunt occurs where?
RBCs and cells where lipid production is abdundant
Glycolysis
Cytoplasm
TCA cycle
Mitchondria
Electron transport chain
Inner mitonchondrial membrane
Gluconeogenesis
Both cytoplasm and mitochondria
Hexose monophosphate shunt occurs
Cytoplasm
Fatty acid synthesis
Cytoplasm
Beta oxidation
Mitochondria
Degradation of glycogen by acid maltase
Lysosome
Oxidation of very long chain fatty acids
Peroxisome
Heme synthesis
Both cytoplasm and mitochondria
Transport of cytostolic NADH to the inner mitochondrial membrane, present in muscle and brain
Glycerophosphate shuttle
Transport of cytostolic NADH to the inner mitochondrial membrane, present in liver, kidney and heart
Malate aspartate shuttle
Transport of mitochondrial acetyl coA into the cytoplasm to produce a 16-C fatty acid
Citrate shuttle
Transport of cystostolic palmitoyl CoA into the mitochondria for beta oxidation
Carnitine shuttle
ATPs produced from anaerobic glycolysis
2
ATPs produced from aerobic glycolysis
6 or 8
ATPs produced from each molecule of FADH2 in TCA
2
ATPs produced from each molecule of NADH2 in TCA
3
ATPs produced from complete oxidation of glucose
36 or 38
ATPs produced from complete oxidation of palmitate
129
Present in liver parenchymal cells and islet cells of the pancreas
Glucokinase
Phosphorylates glucose and other hexoses
Both
Low Km
Hexokinase
High Vmax
Glucokinase
Pyruvate to Acetyl CoA (Enzyme)
Pyruvate Dehydrogenase
Pyruvate to Lactate (Enzyme)
Lactate Dehydrogenase
Pyruvate to Oxaloacetate (Enyzme)
Pyruvate Carboxylase
Pyruvate to Ethanol (Enzyme)
Pyruvate Decarboxylase
Pyruvate to Alanine (Enzyme)
Alanine Aminotransferase
Pyruvate to lactate requires?
NADH
Isocitrate to a-Ketoglutarate
NAD+
Pyruvate to acetyl coA requires?
NAD+, FAD+
Succinate to fumarate requires?
FAD
Acetyl CoA to Palmitate requires?
NAD+
Succinate thiokinase enzyme produces?
GTP
a-ketoglutarate dehydrogenase produces?
NADH, CO2
Malate dehydrogenase produces?
NADH
Aconitase produces?
None
Succinate dehydrogenase produces?
FADH2
Creates a(1,4) linkages and elongates the glycogen chains?
Glycogen synthase
Transfers 5 to 8 glucosyl residues and creates a(1,6) linkages
Branching enzyme
Cleaves a(1,4) bonds to produce glucose 1 P
Glycogen phosphorylase
Cleaves a(1,4) bonds and a(1, 6) to produce free glucose
Debranching enzyme
Long chain of carboxylic acid with no double bond
Saturated fatty acid
Long chain of carboxylic acid with one double bond
Monounsaturated fatty acid
Long chain of carboxylic acid with two or more double bonds
Polyunsaturated fatty acid
Fatty acids associated with increased risk of atherosclerosis
Trans fatty acids and Saturdated fatty acids
Essential fatty acids
Linoleic and Linolenic F.A.
Immediate precurosor of prostaglandins
Arachidonic Acid
End product of fatty acid synthesis
Palmitate
3-C compound that is a product of oxidation of odd-mumbered fatty acids
Propionyl CoA
The 3 ketone bodies
Betahydroxybutyrate, acetone, acetoacetic acid
3 organs that use ketons as fuel source
Muscle, renal cortex, brain in prolonged fast
2 primary bile acids
Chenodeoxycholate and colic acid
Clinical manifestation of lipid malabsportion
Steatorrhea
Spherical macromolecular complexes composed of a neutral lipid core surrounded by a shell of amphipathic lipoproteins, phospholipid, and nonesterified cholesterol
Lipoprotein
Protein moeity of lipoproteins
Apoproteins
Transport dietary triglyceride and cholesterol from intestine to tissues
Chylomicrons
Transport triglyceride from liver to tissues
VLDL
Delivers cholesterol into cells
LDL
Reverse cholesterol transport
HDL
Shuttles apo C-II and apo E in the blood
HDL
Highest triglycerdie content
Chylomicrons
Highest protein content
HDL
Highest cholesterol content
LDL
Mediates chylomicron secretion
Apo B48
Activates lipoprotein lipase
Apo C-II
Mediates uptake of chylomicron remnant
Apo E
Binds to LDL receptor and mediates VLDL secretion
Apo B-100
Activates LCAT to produce cholesteryl esters in HDL
Apo A-1
Degradation of TAG stored in adipocytes
Hormone sensitive lipase
Degradation of dietary TAG in small intestine
Pancreatic lipase
Degradation of TAG circulating in chylomicrons ang TAGs
Lipoprotein lipase
Degradation of TAG in IDL
Hepatic TAG lipase
Major component of lung surfactant
Dipalmitoylphosphatidylcholine
Only glycerophospholipid that is antigenic
Cardiolipin
Reservoir for arachidonic acid in the membranes and precursor for IP3 and DAG
Phosphatidylinositol
Important constituent of myelin
Sphingomyelin
Acidic amino acids
Aspartate and Glutamate
Basic amino acids
Histidine, arginine, lysine
Smallest side chain
Glycine
Largest side chain
Tryptophan
Causes kinks in collagen
Proline
Plays a role in oxygen binding to hemoglobin and myoglobin
Histidine
Transfer of methyl groups as SAM
Methionine
Diagnosis of folic acid deficiency
Histidine
Nutritionally essential amino acids
PVT TIM HALL
Hemoglobin synthesis
Glycine
Precursor of niacin
Tryptophan
Precursor of nitric oxide
Arginine
Precursor of melanin
Tyrosine
Precursor of serotonin
Tryptophan
Precursor of catecholamines
Tyrosine
Precursor of melatonin
Tryptophan
Precursor of GABA
Glutamate
Precursor of histamine
Histidine
Precursor of thyroid hormones
Tyrosine
Precursor of Tyrosine
Phenylalanine
Precursor of glutathione
Glutamate
Precursor of homocysteine
Methionine
Beta pleated sheet
Secondary structure
Sequence of amino acids
Primary structure
Determines whether protein is globular or fibrous
Tertiary structure
More than one polypeptide
Quaternary structure
Edman’s reagent
Primary structure
Domains
Tertiary structure
Contains heme (Hemoglobin or Myoglobin)
Hemoglobin and Myoglobin
Fibrous protein (Hemoglobin or Myoglobin)
None
Only exhibits tertiary structure (Hemoglobin or Myoglobin)
Myoglobin
Found in heart and skeletal muscle (Hemoglobin or Myoglobin)
Myoglobin
Binds four molecules of oxygen at a time (Hemoglobin or Myoglobin)
Hemoglobin
Binding of oxygen is affected by changes in pH and CO2 concentration (Hemoglobin or Myoglobin)
Hemoglobin
Reservoir of oxygen (Hemoglobin or Myoglobin)
Myoglobin
Exists in taut and relaxed form (Hemoglobin or Myoglobin)
Hemoglobin
Sigmoidal oxygen dissociation curve (Hemoglobin or Myoglobin)
Hemoglobin
Most abundant form in adults
Hemoglobin A
Hemoglobin bound to 4 oxygen molecules
R form
Hemoglobin without any oxygen molecule bound to it
T form
Non-enzymatic addition of glucose to hemoglobin, used to determine level of control of diabetes mellitus
HBA1C
Oxidation of the heme component of hemoglobin to Fe3+, which cannot bind oxygen
Methemoglobin
Carbon monoxide binds tightly but reversibly to the hemoglobin iron
Carboxyhemoglobin
Carbon dioxide bound to hemoglobin for transport in the blood
Carbaminohemoglobin
Tetramer consisting of two alpha chains and gamma chains
Fetal hemoglobin
Gamma tetramers in the newborn
Hemoglobin Barts
Most common collagen type
Type I
Type of collagen, basement membrane
Type IV
Type of collagen, granulation tissue
Type III
Type of collagen, reticulin and blood vessels
Type III
Type of collagen, nucleus polposus, vitreous body and cartilage
Type II
Type of collagen, tendon, fascia, bone
Type I
Nitrogen balance in pregnancy
Positive
Nitrogen balance in malignancy
Negative
Give 3 compounds in which organisms excrete excess nitrogen
Ammonia, uric acid, urea
Through this enzyme, amino acids transfer their amino groups to glutamate
Aminotransferases
Through this enzyme, glutamate is oxidatively deaminated to liberate free ammonia
Glutamate dehydrogenase
Through this enzyme, glutamine is synthesized from glutamate and ammonia
Glutamine synthase
Through this enzyme, glutamine is deaminated to glutamate in the kidneys and intestines
Glutaminase
Which 3 compounds are the immediate donors of the atoms of urea
Aspartate, free ammonia, carbon dioxide
Pyruvate transamination will produce
Alanine
Alpha-ketoglutarate transamination will produce
Glutamate
Oxaloacetate transamination will produce
Aspartate
(Glucogenic vs. Ketogenic) Lysine, Leucine
Ketogenic
(Glucogenic vs. Ketogenic) Valine
Purely Glucogenic
(Glucogenic vs. Ketogenic) Tyrosine, Isoleucine, Phenylalanine
Both
Glycosaminoglycan which is an impotant coagulant
Heparin
Glycosaminoglycan that attracts water into the ECM
Hyaluronic acid
Glycosaminoglycan that determines charge selectiveness of renal glomerulus
Heparan sulfate
Glycosaminoglycan that is located at sites of calcification of endochondral bone
Chondroitin sulfate
Glycoprotein that serves as a lubricant and a protective agent
Mucin
Glycoprotein that serves as transport molecules
Transferrin, ceruloplasmin
Glycoprotein that are considered immunologic molecules
Immunoglobulins
Oligosaccharide in blood type A
N-acetylgalactosamine
Oligosaccharide in blood type B
Galactose
(Activated or Inhibited?) high insulin; glucose 6-phosphatase
Inhibited
(Activated or Inhibited?) low glucagon; pyruvate kinase
Activated
(Activated or Inhibited?) high epinephrine; HMG CoA reductase
Inhibited
(Activated or Inhibited?) high cAMP; HMG CoA synthase
Activated
(Activated or Inhibited?) Phosphorylation; glycogen synthase
Inhibited
Transketolase reactions in the HMP shunt (Vitamins)
Vitamin B1
Prevents atherosclerotic plaque formation (Vitamins)
Vitamin E
Normalizes calcium levels in response to hypocalcemia (Vitamins)
Vitamin D
Acetyl CoA to Malonyl CoA (Vitamins)
Biotin
Hydroxylation of collagen (Vitamins)
Vitamin C
Hartnup disease (Vitamins)
Niacin
Condensation of glycine and succinyl CoA (Vitamins)
Vitamin B6
All aminotransferases (Vitamins)
Vitamin B6
Carboxylation of glutamic acid residues in coagulation factors (Vitamins)
Vitamin K
Diarrhea, dementia, dermatitis (Vitamins)
Vitamin B3
Co-factor for acyl transfers and component of fatty acid synthase (Vitamins)
Vitamin B5
Megaloblastic anemia (Vitamins)
Vitamin B12, Folate
Retrieval of glucose from glycogen (Vitamins)
Vitamin B6
Teratogenic (Vitamins)
Vitamin A
Deficiency may result in hemolysis (Vitamins)
Vitamin E
Anencephaly and spina bifida (Vitamins)
Folic Acid
Increase iron absorption (Vitamins)
Vitamin C
Anemia and hemochromatosis (Mineral)
Iron
Glutathione peroxidase (Mineral)
Selenium
Carbonic anhydrase, alcohol dehydrogenase, DNA and RNA polymerase (Mineral)
Zinc
Cytochrome oxidase, dopamine, B-hydroxylase, monoamine oxidase, tyrosinase (Mineral)
Copper
Thyroid hormone synthesis (Mineral)
Iodine
Inorganic substance of bones and teeth (Mineral)
Fluorine
Cytosine, Uracil, Thymine (Purine or Pyrimidine)
Pyrimidine
Adenine, Guanine, Hypoxanthine (Purine or Pyrimidine)
Purine
Ring is constructed on a preformed ribose-5-phosphate (Purine or Pyrimidine)
Purine
APRT and HGPRT for salvage pathway (Purine or Pyrimidine)
Purine
PRPP is donor of ribose-5-phosphate (Purine or Pyrimidine)
Both
Ring can be opened and degraded to highly soluble structures (Purine or Pyrimidine)
Pyrimidine
What is the parent purine?
IMP
What is the parent pyramidine?
OMP
What enzyme converts ribonucleotides to deoxyribonucleotides?
Ribonucleotide reductase
Which enzymes converts AMP to ADP and GMP to GDP?
Monophosphate kinase
Chargaff’s Rules (DNA or RNA)
DNA
Uracil (DNA or RNA)
RNA
Usually double stranded (DNA or RNA)
DNA
More susceptible to hydrolysis (DNA or RNA)
RNA
DNA to RNA
Transcription
RNA to protein
Translation
DNA to DNA
Replication
RNA to DNA
Reverse Transcription
Prinbow box
Transcription, prokaryotic
Hogness box
Transcription, eukaryotic
Shine Dalgarno sequence
Translation
Lac Operon
Transcription
Sigma factor
Transcription
Unwinds double helix
Helicase
Removes supercoils
Topoisomerase
Identifies origin of replication
DNA A protein
Synthesis of RNA primer
Primase
Maintains the separation of the parental strands
SS DNA-Binding proteins
Elongation of leading strand
DNA Polymerase III
Excision of primers
DNA Polymerase I
Seals the nick between Okazaki fragments
Ligase
Largest (mRNA, tRNA, rRNA, snRNA)
mRNA
Smallest (mRNA, tRNA, rRNA, snRNA)
tRNA
Most abundant (mRNA, tRNA, rRNA, snRNA)
rRNA
Site of protein synthesis (mRNA, tRNA, rRNA, snRNA)
rRNA
Carries genetic information from nuclear DNA to the cytosol (mRNA, tRNA, rRNA, snRNA)
mRNA
Presence of unusual bases (mRNA, tRNA, rRNA, snRNA)
tRNA
Poly-A tail (mRNA, tRNA, rRNA, snRNA)
mRNA
3’-CCA sequence (mRNA, tRNA, rRNA, snRNA)
tRNA
mRNA processing and gene regulation (mRNA, tRNA, rRNA, snRNA)
snRNA
Conserved from very early stages of evolution (Genetic code)
Universal
Given amino acid may have more than one codon coding for it (Genetic code)
Degenerate
Codon always code for the same amino acid (Genetic code)
Specific
Empty tRNA (A site, P site, E site)
E site
Growing peptide chain (A site, P site, E site)
P site
Incoming aminoacyl tRNA (A site, P site, E site)
A site
Stop codons
UGA, UAA, UAG
Give the codon coding for methionine
AUG
Methylguanosine cap (Post-transciptional or Post-translational)
Post-Transcriptional
Removal of introns (Post-transciptional or Post-translational)
Post-Transcriptional
Hydroxylation of collagen (Post-transciptional or Post-translational)
Post-Translational
Conversion of proinsulin to insulin (Post-transciptional or Post-translational)
Post-Translational
Chronic hemolytic anemia, most common enzyme defect in glycolysis
Pyruvate Kinase Deficiency
Flatulence, cramps, and diarrhea after ingestion of diary products
Lactose Intolerance
Severe fasting hypoglycemia, hepatomegaly, elevated gylcogen in liver
Von Gierke Disease- Glucose 6-phophatase deficiency
Cardiomegaly and heart failure from impaired glycogen metabolism
Pompe Disease
Hepatomegaly, milder forn of Von Gierke disease
Cori Disease- Debranching enzyme deficency
Myoglobinuria with strenous exercise
Mc Ardle Disease
Decreased NADPH in RBCs leads to hemolytic anemia due to poor RBC defense against oxidizing agents
G6PD Deficiency
Recurrent pyogenic infections due to impairment of respiratory burst of neutrophils and monocytes
Chronic Granulomatous Disease- NADPH Oxidase deficiency
Cataracts within a few days of birth, vomiting and diarrhea after milk ingestion, lethargy, hypotonia, mental retardation
Classic Galactosemia- Galactosemia 1P Uridyltransferase Deficiency
Galactosemia, galactosuria, cataracts in early childhood
Galactokinase Deficiency
Benign Fructosuria
Fructokinase Deficiency
Fructosuria, severe, hypoglycemia, lactic acidosis, liver damage, jaundice
Aldolase B Deficiency- Fructose Intolerance
Progressive cognitive and behavioral impairment due to accumulation of amyloid plaques in the hippocampus and cerebral cortex
Alzheimer Disease
Fatal neurodegenerative disease characterized by spongiform changes, astroclyclic gliomas, and neuronal loss
Prion Disease
Glutamate replaced by valine at position 6 of the beta globulin chain, causing hemoglobin that polymerizes inside the RBC
Sickel Cell Disease
Synthesis of alpha chains is decreased or absent
Alpha Thalassemia
Synthesis of beta chains is decreased or absent
Beta Thalassemia
Spectrin Deficiency causes spherical RBCs that are rapidly culled by the spleen
Hereditary Spherocytosis
Blue Sclerae, multiple fractures, conductive hearing loss
Osteogenesis Imperfecta
Berry Aneurysms, hyperextensible skin, hypermobile joints, tendency to bleed
Ehler- Danlos
Loose teeth, sore spongy gums, poor wound healing, petechia on skin and mucouse membranes
Scurvy
The skin breaks and blisters as a result of minor trauma
Epidermolysis Bullosa Dystrophica
Hereditary nephritis with sensorineural hearing loss
Alport Syndrome
Aortic dilatation, dolichostenomelia, arachnodactyly
Marfan
Panacinar emphysema and live failure
Alpha 1 Antitrypsin Deficiency
Hepatolenticular degeneration from accumulation of copper in tissues, with low levels of ceruloplasmioon
Wilson’s Disease
Impaired transfer of copper from intestinal mucosal cells to the blood leading to growth retardation, mental deficiency, and kinky hair
Menke’s Syndrome
Severe mental retardation, coarse facial features, and skeletal abnormalities from accumulation of partially degraded glycoproteins in lysosomes
I-Cell Disease
Musty body odor mental retardation, growth retardation, fair skin, eczema
Phenylketonuria
Urine turns black upon standing with debilitating arthralgias
Alkaptonuria
Decreased pigmentation that increases risk for skin cancer
Albinism
Atherosclerosis, lens subluxation, stroke, myocardial infarction, osteoporosis, tall stature
Homocysteinuria
Staghorn calculi due to inherited defect of renal tubular amino acid transporter
Cytinuria
Mental retardation from blocked degradation of branched-chain amino acids
Maple Syrup Urine Disease
Photosensitivity, chronic inflammation to over blistering and shearing in exposed areas of the skin due to defects in heme synthesis
Porphyrias
Protein deprivation that is relatively greater than the reduction in total calories
Kwashorkor
Caloric deprivation is relatively greater than reduction in protein
Marasmus
Alcohol lead to fat accumulation
Fatty Liver
Cerebrohepatorenal syndrome due to absence of peroxisomes
Zellweger Syndrome
Defect peroxisomal activation of VLCFA lead to accumulation of VLCFA in the blood and tissues
X-linked Adrenoleukodystrophy
Accumulation of phytanic acid
Refsum’s Disease
Hypoglycin from unripe fruit of the akee tree inactivates medium-and short- chain acyl CoA dehydrogenase
Jamaican Vomiting Sickness
Excess TAGs and chylomicrons in blood leads to deposition in liver, skin, pancreas
Type I Hypertriglyceridemia-genetic absence of lipoprotein lipase
Elevated LDL cholesterol with increased risk for atherosclerosis and coronary artery disease
Type II Hypertriglyceridemia-LDL receptor deficiency
Accumulation of fat in the intestinal enterocyte and hepatocyte, with deficiency in fat soluble vitamins and essential fatty acids
Abetalipoproteinemia
Failure to thrive, salt-wasting, hypoglycemia, ambiguous genitalia
Congenital Adrenal Hyperplasia
Mental retardation, cherry-red spot on macula, lysosomes with onion skin, but no hepatomegaly from accumulation of GM2 ganglioside
Tay-Sachs Disease
Mental retardation, aseptic necrosis of femur, enlarged liver and spleen from accumulation of glycosylceramide
Gaucher’s Disease
Mental retardation, enlarged liver and spleen, cherry red spot on macula, foam cells, from accumulation of sphingomyelin
Niemann-pick Disease
Acute arthritis with deposition of uric acid
Gout
Gout and self mutilation
Lesch-Nyhan Syndrome-HGPRT deficiency
Severe combined Immunodeficiency
Adenosine Deaminase Deficiency
Abnormal growth, megaloblastic anemia, prostate in urine
Orotic Aciduria
Xeroderma pigmentosum
Inability to repair thymine dimers
Hereditary Nonpolyposis Colon Cancer
Inability to repair mismatched strands
Hungtington’s Disease
Triple Repeat Expansion
Sickle Cell Disease
Point Mutation
