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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



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