Busy. Please wait.

show password
Forgot Password?

Don't have an account?  Sign up 

Username is available taken
show password


Make sure to remember your password. If you forget it there is no way for StudyStack to send you a reset link. You would need to create a new account.
We do not share your email address with others. It is only used to allow you to reset your password. For details read our Privacy Policy and Terms of Service.

Already a StudyStack user? Log In

Reset Password
Enter the associated with your account, and we'll email you a link to reset your password.
Don't know
remaining cards
To flip the current card, click it or press the Spacebar key.  To move the current card to one of the three colored boxes, click on the box.  You may also press the UP ARROW key to move the card to the "Know" box, the DOWN ARROW key to move the card to the "Don't know" box, or the RIGHT ARROW key to move the card to the Remaining box.  You may also click on the card displayed in any of the three boxes to bring that card back to the center.

Pass complete!

"Know" box contains:
Time elapsed:
restart all cards
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.

  Normal Size     Small Size show me how


Fructose Intolerance Aldolase B LOF-> F1P ins’t metabolized -> reduced available Pi -> reduced gluconeogenesis & glycolysis. Symptoms: Hypoglycemia, jaundice, cirrhosis, vomiting.
Essential Fructosuria Fructokinase LOF-> dietary fructose isn’t trapped in cells -> benign fructosuria & frucosemia
Galactosemia Galactose-1-P Uridyltransferase LOF -> Galactose routed to Galacitol -> toxic accumulation -> Cataracts, MR, Hepatosplenomegaly.
Galactokinase Deficiency Galactosemia & Galactosuria +/- galacitol accumulation.
Lactase Deficiency Age & race dependent. Loss of brush border lactase. Sx: Bloating ,cramps, osmotic diarrhea.
Ketogenic Essential AAs Form Ketone bodies. Lysine, Leucine, Isoleucine, Phenylalanine, Tryptophan, Threonine
Glucogenic Essential AAs Methionine, Valine, Arginine, Histidine, Isoleucine, Phenylalanine, Tryptophan, Threonine
Acidic & Basic AAs Basic: Arginine > Lysine > Histidine (has 0 charge at physiologic pH). Acidic: Aspartate, Glutamate (+ charge at physiologic pH)
Hyperammonemia Hereditary (Ornithine Transcarbamoylase Def) or Acquired (Hepatitis) -> excess NH4+ depletes alpha-Ketoglutarate-> Inhibited TCA cycle. Symptoms: Tremor, slurred speech, somnolence, vomiting, cerebral edema, blurred vision.
Phenylalanine Derivatives Phenylalanine -(phenylalanine hydroxylase)--> Tyrosine* -> Dopa’ -> Dopamine -> NE -> Epi. *Tyrosine -> Thyroxine. ‘Dopa -> Melanin
Tryptophan Derivatives 1) -> Niacin -> NAD/NADP 2) Serotonin -> Melatonin
Histidine Derivatives -> Histamine
Glycine Derivatives Porphyrin -> Heme
Arginine Derivatives 1) -> Creatine 2) -> Urea 3) -> Nitric Oxide
Glutamate 1) -(glutamate decarboxylase + B6)-> GABA 2) -> Glutathione
Phenylketonuria Phenylalanine OHase/Tetrahydrobiopterin LOF-> Phenylalanine not converted to Tyrosine -> Phenylalanine builds up -> MR, growth retardation, fair skin, eczema, musty body odor. Dx: Phenylketones (–acetate, -lactate, -pyruvate) in urine.
Alkaptonuria/Ochronosis Homogentisic Acid Oxidase LOF-> tyrosine not degraded. Signs/Symptoms: Urine turns black on standing, dark connective tissue & arthralgias, otherwise benign.
Albinism Tyrosinase LOF, Tyrosine transporter LOF, or neural crest cell migration failure.
Homocystinuria Homocystine Methyltransferase LOF or Cystathione Synthase LOF/decreased affinity for B6 cofactor. Symptoms: MR, osteoporosis, tall stature, kyphosis, lens subluxation, atherosclerosis (MI/Stroke)
Cystinuria Renal tubule AA transporter LOF -> loss of cystine, ornithine, lysine, arginine in PCT. Symptoms Cystine kidney stones. Treatment: Alkalinize urine w/ Acetazolamide
MSUD Alpha-Ketoacid DeH LOF -> no degradation of Isoleucine, Valine, or Leucine -> CNS problems, MR, Death.
Severe Combined Immunodeficiency Adenosine Deaminase (ADA) Deficiency-> Excess ATP-> feedback inhibition of Ribonucleotide reductase -> prevents DNA synthesis-> reduced T & B Cells (bubble boy)
Lesch-Nyhan Syndrome HGPRT LOF (XR) -> Excessive uric acid production. Signs & Symptoms: MR, SELF-MUTILATION, aggression, hyperuricemia, gout, choreoathetosis.
Sources of Gluconeogenesis Peripheral lactate & alanine, glycerol, propionyl-CoA from odd-chain FA’s.
Insulin & Glucagon Action on cAMP Insulin: lowers cAMP-> lowers PKA. Glucagon: Increases cAMP & PKA
Von Gierke’s Disease G6Phosphatase LOF -> Severe fasting hypoglycemia, elevated blood lactate, uber glycogen in liver & hepatomegaly.
Pompe’s Disease Lysosomal alpha1,4 glucosidase LOF (maltose degradation) -> CARDIOMEGALY, liver & mucle dz.
Cori’s Disease alpha 1,6 glucosidase deficiency -> milder form of Von Gierke’s Disease, w/o elevated blood lactate, and gluconeogenesis is preserved.
McArdle’s Disease Skeletal Muscle Glycogen phosphorylase LOF -> Elevated & undegradable glycogen in muscle-> painful cramps, myoglobinuria.
Fabry’s Disease XR. alpha- Galactosidase A LOF-> ceramide trihexoside accumulation -> stocking & glove neuropathy, CV & Renal disease, angiokeratomas(telangiectasia+wart-like thingy).
Gaucher’s Disease AR. Beta-Glucocerebrosidase LOF -> Cerebroside accumulation -> Hepatosplenomegaly, femur necrosis/bone crises, Gaucher Macrophages (crumpled tissue paper). Presents like leukemias
Neimann-Pick Disease AR. Sphingomyelinase LOF -> sphingomyelin accumulation -> neurodegeneration, hepatosplenomegaly, cherry-red spots on macula (like T-S), foam cells.
Tay-Sachs Disease AR. Hexosaminidase A LOF -> GM2 Ganglioside accumulation -> Neurodegeneration & developmental delay -> Cherry-red spots on macula (like N-P), Onion-skin lysosomes
Krabbe’s Disease AR. Galactocerebrosidase LOF -> Galactocerebroside accumulation -> Optic atrophy & peripheral neuropathy, developmental delay, Goboid cells.
Metachromatic Leukodystrophy AR. Arylsulfatase A LOF -> Cerebroside Sulfate accumulation -> CNS & PNS demyelination w/ ataxia, dementia.
Hurler’s Syndrome AR. Alpha-L-Iduronidase LOF-> Heparan & Dermatan Sulfate accumulation -> Gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly.
Hunter’s Syndrome XR. Iduronate Sulfatase LOF -> Heparan & Dermatan Sulfate accumulation -> less severe Hurler’s sx w/ aggressive behavior, no corneal clouding
Cholesterol Ester Transfer Protein CETP. Transfers cholesterol to other lipoprotein particles
Important Lipoproteins A-I activates LCAT; B-100 Binds LDL receptor, mediates VLDL secretion; C-II co-factor for LPL; B-48 -> chylomicron secretion; E mediates remnant uptake
Sucrose, Lactose, Maltose Sucrose: Fructose + Gluc, Lactose: Galactose +Gluc, Maltose: Gluc+Gluc
Cholesterol Synthesis HMG-CoA -> Mevalonate ->-> Cholesterol. Esterified by lecithin-chol acyltransferase (LCAT) for bile excretion.
Essential Fatty Acids Linoleic & linolenic Acids > Arachidonic acid
Type I Dyslipidemia: Hyperchylomicronemia LPL or C-II LOF -> Elevated Chylomicrons (High serum TGs & chol)
Type IIa Dyslipidemia: Hypercholesterolemia Reduced LDL receptors -> Elevated LDL (High serum Chol (300+ in heteros, 700+ in homos)
Type IV Dyslipidemia: hypertriglyceridemia Hyper production of VLDL-> Elevated serum TGs
Methemoglobin Fe+++ form. High CN- affinity. Produced by nitrite oxidation of Hb + Thiosulfate to renally excrete CN-. METHb can be reversed by METHylene blue.
Carboxyemoglobin CO bound instead of O2
Southern v Northern v Western Blot S: DNA, N: RNA, W: Protein
Ethanol Metabolism NAD limiting reagent-> . Fomepizole -|Alc DeH (in cytosol). Disulfram -| Acetaldehyde DeH (in mitochondria). High NADH drives pyruvate -> lactate & oxaloacetate-> malate, inhibiting gluconeogenesis -> -> hypoglycemia & FA synthesis -> steatotic liver.
Kwashiorkor v. Marasmus Kwashiorkor: Protein malnutrition -> skin lesions, edema, fatty liver/swollen belly. Marasmus: Energy malnutrition -> tissue wasting +/- edema.
De novo Pyrimidine Synthesis Aspartate Transcarbamylase (ATCase)
De novo Purine Synthesis Glutamine-PRPP Amidotransferase
Glycolysis PFK-1
Gluconeogenesis Fructose-1,6 Bisphosphatase (FBP-1)
TCA Cycle Isocitrate Dehydrogenase
Glycogen Synthesis Glycogen Synthase
Glycogenolysis Glycogen Phosphorylase
HMP Shunt G6PD
FA Synthesis Acetyl-CoA Carboxylase
Fatty Acid Oxidation Carnitine Acyltransferase I
Ketogenesis HMG-CoA Synthase
Cholesterol Synthesis HMG-CoA Reductase
Heme Synthesis ALA Synthase
Urea Cycle Carbamoyl Phosphate Synthase I
Created by: Kyle Tiemeier