Diseases associated with FA Synthesis/Oxidation
Myopathic CAT/CPT deficiencyMedium Chain Acyl-dehydrogenase deficiency
What does Aminopeptidase cut?
Right of any AA on the amino terminal
Iduronidase deficiency XRMilder(MPS II)
Diseases associated with Pyruvate Metabolism
Pyruvate Dehydrogenase deficiency
4 hours after dose (if too high, decrease dose)
RLE Purine Synthesis
Lateral leg bowing
RLE Urea Cycle
Where does the Pro label send stuff to?
Galactose-1-uridyl-transferase deficiency Cataracts MRLiver damage
Glucose-6-phosphatase deficiency HypoglycemiaHepatosplenomegaly
Osteogenesis Imperfecta presentation
Shattered bones Blue sclera
Diseases associated with Ketone Body Metabolism
DKA, Alcoholic Ketoacidosis
Made from and broken down to Acetyl CoALysine and Leucine
Linolenic AcidLinoleic Acid
First Order Kinetics
Constant drug percentage metabolized over timeDependent on concentration
Ehlers Danlos presentation
Hyperstretchable skinHyperextensible joints
Branching enzyme deficiencyLong chains of glycogen
Early stop codon
Lysosomal diseases with gargoyle face
Both Ketogenic and Glucogenic
PITTPhenylalanineIsoleucine Threonine Tryptophan
Wing span longer than heightArachnodactyly Aortic root dilation, aortic aneurysm MVPDislocated lens from the bottom (look up)
Diseases associated with Urea Cycle
CPS deficiencyOrnithine Transcarbamoylase deficiency
Niacin (B3) deficiency DiarrheaDermatitisDementiaDeath
Glucocerebrosidase deficiency Wrinkled tissue - crumpled paper macrophageBone pain
Tyrosinase deficiencyNo tyrosine to melanin
Fructokinase deficiencyExcrete fructose (still have hexokinase)
+/- 1 or 2 bases
Concentration of drug that binds 50% of receptors
PVT TIM HALLPhenylalanineValineTryptophan Threonine Isoleucine Methionine Histidine Arginine LysineLeucine
Diseases associated with Gluconeogenesis
Forms C-C bond using ATP and Biotin
Binds at regulatory site, efficacy decreases, Vmax decreases, Km no change
Difference between Heterochromatin and Euchromatin
H = tight (inactive)E = loose (active)
Where does the N-terminal sequence send stuff to?
Calorie deficiency SkinnyStarvation
Change in one base
What does Carboxypeptidase cut?
Left of any AA on the carboxy terminal
Gives off heat
What AAs does Acid Hydrolysis cut?
What AAs do Chymotrypsin cut?
Bleeding gums and hair follicles
Debranching enzyme deficiencyShort branches of glycogen
Removes H with cofactor
Diseases associated with AA Synthesis/Metabolism
Hartnup's, PKU, Alkaptonuria, Homocysteinuria, Cystinuria, MSUD, Propionyl-CoA Carboxylase deficiency, Methylmalonyl-CoA Mutase deficiency
Galactokinase deficiency Cataracts
Hexosaminidase A/B deficiencyWorse
Consumes 2 substrates
Muscle phosphorylase deficiencyMuscle cramps with exercise
Diseases associated with Lipoprotein Transport/Metabolism
FA transport into mitochondria
RLE FA Synthesis
Acetyl CoA Carboxylase
What AAs do Trypsin cut?
What does THF donate methyl groups to?
Differs around 1 chiral carbonGlucose --> Galactose
Defective metabolism of branched chain AADefect in nephron transport system
What is efficacy and what affects it?
Max effect regardless of doseVmax
Most common intracellular buffer
Diseases associated with AA derivatives
AlbinismCarcinoidAcute Intermittent PorphyriaPorphyria Cutanea TardisLead PoisoningHemolytic Anemia UDP Glucoronyl Transferase
What does Mercaptoethanol cut?
Right of Cysteine and Methionine
Anterior leg bowing
What does Biotin donate methyl groups to?
Disulfide bond making AA
What is potency and what affects it?
Amount of drug needed to produce effectKm
Change base, codes for same AA
Breaks S bond
Diseases associated with Lipid Derivatives
Tay SachsNiemann PickGaucherFabryMetachromatic LeukodystrophyHunter (MPS II)Hurler (MPS I)
Tryptophan deficiency No niacin or serotonin Pellagra-like presentation Corn-rich diet
Iduronidase deficiency ARWorse (MPS I)
Sphingomyelinase deficiency Zebra bodiesOrganomegaly
Made from and broken down to anything but Acetyl CoA
What does Elastase cut?
Right of Glycine, Alanine, Serine
Where does the Mannose-6-P send stuff to?
AA used to make CYS
Same chemical make up but different structureGlucose --> Fructose
Minky Kinky Hair presentation
Cu deficiency Hair looks like Cu wire
Pur --> Pur
4 types of Collagen
SCABType I: Skin, BoneType II: CT, Aqueous HumorType III: ArteriesType IV: Basement Membrane
Arylsulfatase deficiency Childhood MS
Best AA buffer in the body
Change base, codes for different AA
Phosphorylates using ATP
FA transport out of mitochondria
Most common extracellular buffer
Diseases associated with Glycogenesis/Glycogenolysis
Cuts C-C bonds using ATP
Takayasu Arteritis presentation
Asian female with very weak pulsesGranulomatous arteritis
Lysosomal diseases with cherry red spot
Tay Sachs Niemann Pick
RLE Cholesterol Synthesis
HMG CoA Reductase
Binds at active site, potency decreases, Km increases
Where does the Pre label send stuff to?
Beta-galactosidase deficiencyGloboid bodies NeuropathyEye issues
Pur --> Pyr
RLE Pyrimidine Synthesis
What AAs do Beta-ME cut?
Extrachain movement of sidechain from 1 substrate to another
AA causes kinks
Marfanoid Dislocated lens from the top (look down)
Sulfur containing AA
Aldolase B deficiency Fructose intolertanceLiver damage
Diseases associated with Glycolysis
GalactosuriaGalactosemiaFructosuriaFructosemiaPyruvate Kinase deficiency
RLE Heme Synthesis
Hexosaminidase A deficiency BlindnessIncoordinationDementiaNO organomegaly
Catecholamine making AA
Zero Order Kinetics
Constant drug amount metabolized over timeIndependent of concentration
HMG CoA Synthase
Phosphorylates using Pi
Diseases associated with HMP Shunt
2 hours before dose (if too high, give less often)
What does Alpha-1-antitrypsin do?
Inhibit trypsin from getting loose
Consumes 2 substrates using ATP
Alpha-galactosidase deficiency X-linkedCorneal clouding Attacks baby's kidneys
RLE TCA Cycle
White diaper crystals
Excess orotic acid
Protein deficiency Ascities (big belly)Malabsorption
Phenylalanine hydroxylase deficiency No phenylalanine to tyrosine - deficient in tyrosine (blonde, blue eyes, fair skin)Build up of phenyl-pyruvate/acetate (musty odor)MRNutrisweet sensitivity
Intrachain movement of sidechain from 1 C to another
Excitatory for CNS AA
No homocysteine to cysteine Results in "COLA" stonesCysteineOrnithine LysineArginine
Breaks P bond
What AA turns yellow on Nihydrin Reaction?
Half Life (t1/2)
Time it takes for the body to use half of the drug ingested
What does SAM donate methyl groups to?
Everything else (not carboxylation or nucleotides)
C, U, T
Concentration of drug that produces 50% of maximal response
RLE HMP Shunt