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Final exam Flashcards

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1
Q

GLUT 2 transporter

A

Facilitated diffusion from intestinal cell into blood for Glu, gal, Fru

Liver/pancreatic uptake - Low affinity, high capacity so only active in periods of high glucose

No hormonal control

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2
Q

GLUT 4 transporter

A

Muscle and adipose cell uptake

Regulated by insulin

Active only in high blood glucose (insulin active)

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3
Q

Decreased Insulin sensitivity and GLUT 4

A

Decreased sensitivity = decreased GLUT 4 = hyperglycemia

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4
Q

Regulation of hexokinase

A

Glucose –> G6P

Inhibited by G6P

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5
Q

PFK-1 Regulation

A

F6P –> F-1,6-BP

Activated by F2,6BP
Inhibited by citrate

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6
Q

FBPase-1 regulation

A

Gluconeogensis reaction

F1,6BP –> F6P

Activated by citrate
Inhibited by F2,6BP

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7
Q

Essential fructosuria

A

Defect in fructokinase –> elevated fructose in urine

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8
Q

Hereditary fructose intolerance

A

Aldolase B deficiency

F1P –> DHAP + Glyceraldehyde

Increase in F1P –> Phosphate trapping –> Inhibition of glycogenolysis and gluconeogenesis b/c no ATP available

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9
Q

Hereditary fructose intolerance symptoms

A

Hypoglycemia
Cirrhosis
Jaundice

Glycogen phosphorylase inhibited (Buildup in liver)

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10
Q

Galactokinase deficiency

A

Elevated blood galactose

Galacitol formation –> Cataracts

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11
Q

Classic galactosemia

A

Uridyl transferase deficiency

Elevated G1P:

Increased galacitol –> cataracts

Phosphate trapping –> fucked

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12
Q

Glucokinase

A

Liver glucose phosphorylater

Stimulated synthesis by insulin

Low affinity, high capacity

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13
Q

PFK2 Regulation

A

F6P –> F2,6BP

Stimulated by Ppase (via insulin)

Inhibited by PKA (via glucagon)

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14
Q

FBPase2 regulation

A

F2,6BP –> F6P

Stimulated by PKA (via glucagon)

Inhibited by PPase (via insulin)

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15
Q

Pyruvate kinase regulation

A

PEP –> Pyruvate

Activated by: F1,6BP, PEP, Ppase (via insulin)

Inhibited by: PKA (via glucagon), alanine

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16
Q

Pyruvate carboxylase regulation

A

Gluconeogensis rxn

Pyruvate –> OAA

Activated by Acetyl CoA

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17
Q

PEP carboxykinase regulation

A

OAA –> PEP

Inhibited by insulin
Activated by cortisol

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18
Q

Glycogen phosphorylation regulation

A

Glucagon/Epinephrine –> Gprotein and cAMP increase –> PKA activation

PKA –> Glycogen synthase inhibition
–> Phosphorylase kinase activation

PhosKinase –> glycogen phosphorylase activated

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19
Q

Glycogen phosphorylation and G6P

A

G6P inhibits phosphorylase kinase

Allosteric inhibition of Active GlycPhos

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20
Q

GSD Type 0: Enzyme defect, clinical features, biochem, workup/treatment

A

Defect: Glycogen Synthase

Clinical features: Fasting hypoglycemia, ketosis, hypoala, hypolactate
Post prandial hyperglycemia

Biochem: No glycogen, use alt resources in fasting

Workup: Fasting glu, ketones, ala, lactate

Treat: Avoid fasting

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21
Q

GSD Type 1a/1b: Enzyme defect, clinical features, biochem, workup/treatment

A

Defect: G6Pase and G6P transporter

Clinical Features: Hepatomegaly and liver dysfunction, kidney dysfunction, elevated TGs/cholesterol/VLDL, elevated lactate/ala, uricemia, platelet dysfunction and anemia, growth failure

Biochem: Glycogenolysis and gluconeogenesis inhibited by elevated G6P

Workup: Check values of above things

Treat: NG tube, diet

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22
Q

GSD Type II: Enzyme defect, clinical features, biochem, workup/treatment

A

Defect: Lysosomal acid maltase

Clinical features: Muscle related deficits. Hypotonia, areflexia etc

Buildup of glycogen in lysosome, but cytoplasmic glycogen is handled

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23
Q

GSD Type III: Enzyme defect, clinical features, biochem, workup/treatment

A

Defect: Debranching enzyme

Clinical features: Hepatomegaly and liver dysfunction, hypoglycemia, muscle wasting

Biochem: Short branches interfere with glycogen phosphorylase –> decreased breakdown so buildup in liver

Workup/treatment: Check fibroblast enzyme activity, liver function, glucose. Avoid hypoglycemia, increase protein

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24
Q

GSD Type IV: Enzyme defect, clinical features, biochem, workup/treatment

A

Defect: Branching enzyme

Clinical features: Severe and quick onset liver dysfunction and progression to cirrhosis

Biochem: Non branched glycogen hydrated and excess water stored in liver cells –> not good

Not many treatment options

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25
GSD Type V & VI: Enzyme defect, clinical features, biochem, workup/treatment
Defect: Glycogen phosphorylase (V = muscle, VI = liver) Clinical features: V - Onset in teens/20s, severe fatigue after exercise VI - Younger onset. Mild hypoglycemia, hyperlididemia, ketosis Workup: V - CK, urinalysis VI - Glucose, ketones, lipids Treat: V - High protein diet, creatine supplement VI - Diet restrictions
26
Nucleotide metabolism overview
G6P --> R5P --> PRPP (PRPP synthetase) --> 5phosphoBetaRibosylamine --> --> IMP --> AMP/GMP --> ADP/GDP
27
Regulated steps of nucleotide metabolism
PRPP synthetase: Inhibited by A/GMP, A/GDP PRPP amidotransferase: Inhibited by A/GMP, A/GDP
28
Purine salvage - G
GMP/GDP/GMP --> Guanosine --> Xanthine OR GMP (PRPP needed) Xanthine --> uric acid (Xanthine oxidase)
29
Purine salvage - A
AMP/ADP/ATP --> Adenosine --> Inosine --> Hypoxanthine --> Xanthine OR IMP (PRPP needed) Xanthine --> uric acid
30
Gout PRPP synthetase defects
1. Increased in Vmax 2. Increased affinity (lower Km) 3. Reduced feedback inhibition All lead to increased purine levels
31
Hyperuricemia and gout
Can be caused by GSD type 1 --> G6P converted to R5P and excess uric acid formation
32
Gout treatment categories
Acute attack treatment Prevention of uric acid formation
33
Gout acute attack management
NSAIDs Colchicine, steroids
34
Gout prevention treatment
Allopurinol - Xanthine oxidase inhibitor Febuxostat - Xanthine oxidase inhibitor
35
Probenecid and Sulfinpyrazone
Increase uric acid excretion via inhibition of absorption Use with large fluid intake
36
Lesch Nyhan syndrome
Severe defect in HGPRT Substantial increase in uric acid formation Altered mental status and aggressive behavior Do not survive past teens
37
Pyrimidine metabolism overview
Glutamine+ATP+CO2 --> Carbamoyl phosphate (CPSII) --> carbomyl aspartate --> Oritic acid --> OMP --> UMP --> UTP --> CTP
38
Carbamoyl phosphate synthetase II regulation
Stimulated by: ATP, PRPP Inhibited by: UDP, UTP
39
Oritic aciduria
Failure to metabolize oritic acid --> excess in blood Megaloblastic anemia, failure to thrive
40
Deoxynuclotide formation
A/G/C/UDP --> dA/G/C/UDP via ribonucleotide reductase Require oxidation of thioredoxin
41
Formation of Thymidine
dUDP --> dUMP --> TMP (requires N5N10mTHF) Thymidylate synthase
42
Hydroxyurea
Antineoplastic drug: CLL, SCC Inhibits Ribonucloetide reductase Can be used in sickle cell treatment to increase levels of fetal Hb
43
5 Fluorouracil
Converted to F-dUMP --> inhibits thymidylate synthase No Thymidine synthesi
44
Methotrexate
Inhibition of DHF reductase --> no THF Given with leucovorin to protect normal cells
45
6 Mercaptopurine
Inhibits HGPRT No purine salvage Azathioprine = prodrug
46
Tangiers disease
HDL is 1-5% normal value Defect in Cholesterol efflux regulatory protein --> Cholesterol cannot be pumped out of cells to HDL Decreased cholesterol and phospholipids in plasma Cholesterol accumulation in macrophages which infiltrate artery wall --> CAD
47
Type I Hyperlipidemia
Marked accumulation of chylomicrons due to: 1. LPL defect 2. Apo CII defect Very high plasma TGs, hepatomegaly, splenomegaly
48
Type II hyperlipidemia
Familial hypercholesterolemia Elevated LDL and total cholesterol Genetic defects in synthesis/processing/function of LDL receptor...homozygous = worse
49
Type III Hyperlipidemia
Familial dysbetalipoproteinemia Hypercholesterolemia --> premature atherosclerosis Accumulation of chylomicron remnants and IDL b/c defective ApoE and no uptake/clearance by liver Increased IDL = no VLDL --> IDL formation = HyperTGs
50
Type IV Hyperlipidemia
MOST COMMON Increased triglycerides Overproduction of VLDL often due to obesity, alcohol use, DM Diabetes = less Hormone sensitive lipase inhibition = Fatty acid mobilization to liver --> Increased VLDL CAD risk
51
Ceramide R group
H
52
Sphingomyelin R group
Phosphocholine
53
Cerebroside R group
Monosaccharide
54
Globoside R group
2+ sugars
55
Ganglioside R group
2+ sugars AND sialic acid group
56
Gaucher's disease: Enzyme Defect, Buildup, Features
Enzyme: Glucocerebrosidase Buildup: Glucocerebroside Features: Hepatosplenomegaly, bone pain, mental problems Enzyme Replacement Therapy
57
Krabbe Disease: Enzyme defect, buildup, features
Enzyme: Galactocerebrosidase (Beta Galactosidase) Buildup: Galactosylceramide Features: Myelin deficiency, no myelinating cells. Neurological deficits
58
Niemann Pick Disease: Enzyme defect, buildup, features
Enzyme: Sphingomyelinase Buildup: Sphingomyelin (A/B) Features: Hepatosplenomegaly, anemia, decreased myelin --> brain abnormalities A more severe than B B - Survive into teens, bone marrow transplant can help C: Defect in cholesterol transport, cholesterol buildup in lysosome --> Similar features to Niemann Pick A
59
Tay Sachs: Enzyme defect, buildup, features
Hexosaminidase A only Buildup of GM2 Blindness, paralysis, brain abnormalities, cherry red spot
60
Sandhoff Disease: Enzyme defect, buildup, features
Hexosaminidase A and B defect Buildup of GM2 and globoside Severe Tay Sachs
61
Farber Disease: Enzyme defect, buildup, features
Defect in Ceramidase Buildup of ceramide Cell death with inflammatory response: Dermatitis, hoarseness, skeletal, mental problems
62
Fabry Disease: Enzyme defect, buildup, features
X linked Defect in alpha galactosidase A Ceramid trihexose buildup Rash, kidney failure
63
Therapy for Gaucher disease
Enzyme replacement therapy Miglustat --> inhibits formation of glucosylceramide
64
Phenylketonuria
Defect in phenylalanine hydroxylase Cannot convert phenylalanine --> Tyrosine Hyperphenylalaninemia is toxic, detrimental to brain development Requires tetrahydrobiopterin
65
Alkaptonuria
Homogentisate oxidase deficiency Buildup of homogentisate Deposits in cartilage - black ears/joints Chronic arthritis
66
Albinism
Defect in tyrosinase --> no formation of melanin from tyrosine
67
Homocysteinuria
``` Cystathionine Beta Synthase defect, buildup of homocysteine (Homocysteine --> Cystathionine) Require Pyridoxine (B6) ``` Deficiency in B12, folate can cause this (Homocysteine --> Methionine) Need B12/Folate for methionine synthase function
68
Propionic acidemia enzyme and vitamin
Propionyl CoA carboxylase deficiency Biotin needed
69
Maple Syrup Urine Disease
Due to defect in metabolism of branched chain amino acids Buildup of Branched Chain alpha Keto acid --> very toxic Thiamine deficiency
70
Roles of albumin
Oncotic pressure Transport Calcium binding
71
Albumin and Ca measurement
Decreases in calcium can alter measured Ca (Decrease albumin = decrease Ca) Need to correct for albumin to get accurate Ca measurement
72
Causes of hypoalbuminemia
Liver dysfunction Malnutrition Volume overload Nephrotic syndrome HF and inflammation
73
Prealbumin role and deficiency
Carrier for T4 and Vitamin A Decreased in liver dysfunction and protein deficiency
74
Kwashiorker vs Marasmus syndromes
Kwashiorkor: Protein malnutrition --> edema, hepatomegaly Marasmus: Total energy malnutrition. Tissue/muscle wasting and loss of subcutaneous fat
75
C reactive protein
Increased in malnutrition and inflammation Binds to dying cells Test CRP to identify inflammation relating to hypoPREalbuminemia
76
Causes of hypoMg
Dietary intake Gi disorders that alter absorption Vomiting/diarrhea Tetracyclines Excess excretion via gentamycin and amphotericin DM and alcohol
77
Diseases that can benefit from Mg
DM BP Osteoporosis Muscle gain
78
Causes of hyperMg
Mg Antacids and laxatives Causes diarrhea, cramping
79
Individuals likely to have Zn deficiency
Older people Pregnant women Infants Alcoholics
80
Zn deficiency sequelae
Loss of appetite Decreased immunity Decreased gonad function Wound healing problems Diarrhea (via infection)
81
Medications and Zn
Zn decreases antibiotic absorption Diuretics increase Zn excretion
82
CBC and disease states
Infection - Elevated WBC, band neutrophils Viral meningitis - WBC in CSF Asthma and steroids - Neutropenia Chemotherapy - Neutropenia
83
Hypothalamus feeding regulation
Lateral nucleus = feeding drive PVN, VMN, Arcuate nuclei = satiety signals
84
Alimentary regulation of feeding
Empty vs full stomach and hormonal release
85
Nutritional regulation of feeding
Food = increased BMR = increased temp = satiety Glucose, FA, AA = satiety
86
Hormonal regulation of feeding
Leptin, CCK = satiety Ghrelin = hunger
87
Neurotransmitters and hunger
Orexin A/B NPY AGRP
88
Neurotransmitters and satiety
CART CCK GLP Serotonin POMC
89
Hormone Sensitive Lipase function and regulation
Convert TGs --> Fatty acid for delivery to muscle/liver Activated by Epi/Glucagon --> PKA Cortisol synthesizes new HSL
90
Leptin receptor and signal transduction
JAK STAT Leptin decreases feeding Increased adipose = leptin = JAK STAT --> hypothalamus = increased alpha MSH --> --> PKA --> HSL activity and fat catabolism Decreased adipose = decreased leptin = no JAK stat = Increased AGRP = decreased alpha MSH --> --> decreased fat catabolism
91
B3 receptor
Activated by NE Increase lipolysis and thermogenesis (energy expenditure as heat) Mutation in B3 = prone to obesity
92
Resistin
Causes insulin resistance Decrease LPL and Increase HSL
93
PPAR gamma
Promote insulin signal, suppress resistin Help resensitize to insulin
94
Uncoupling protein
Prevents ATP formation from metabolism Energy released as heat Thyroid hormone = increase UCP = fat burning
95
Sulfonylurea MoA and side effects
Close KATP channels --> Increase insulin secretion Side effects: Low durability, weight gain, hypoglycemia
96
Metformin MoA and side effects
Decrease hepatic glucose output GI problems, Lactic acidosis, B12 deficiency
97
TZD MoA and Side effects
PPAR gamma activator Increase insulin sensitivity Increase weight, HF, bone fractures
98
DPP4 inhibitor MoA and side effects
Block DPP4 --> Incretin release Angioedema, urticaria
99
SGLT 2 inhibitor
Promote glucose excretion in urine by block kidney reabsorption GU infection, polyuria, volume loss
100
GLP 1 agonist
Incretin effect: Insulin up, glucagon down Decrease gastric emptying, increase satiety (good things)
101
Vitamin A roles
1. Vision 2. Embryonic development 3. Immune system and reproduction
102
Vit A active forms
Retinol Retinal Retinoic acid
103
Vit A metabolism
Ingested as Beta Carotene --> Retinaldehyde/Retinal Retinal reduced by NADPH in intestine --> Retinol (reproduction) --> esterified and transported to liver --> retinol palmitate Retinal oxidized --> all trans retinoic acid (growth, epithelial differentiation) 9 cis retinoic acid
104
Retinol function
Stored in liver as retinol palmitate Circulates bound to RBP --> target tissues = gonads Normal reproduction, spermatogenesis
105
Retinoic acid function
Required for embryonic development and growth/differentiation of epithelial cells All trans retinoic acid --> binds to RAR 9 cis retinoic acid --> binds to RXR Both involved in stimulating coding of proteins
106
Vit A form used for vision
Retinal isomers
107
Visual cycle steps
1. Receptor activation | 2. Signal transduction
108
Visual cycle - Receptor activation
Retinal --> 11-cis-retinal 11-cis-retinal + opsin = Rhodopsin Rhodopsin = G protein w/photon as ligand Photon + Rhodopsin = Bathorhodopsin --> Metarhodopsin II
109
Visual cycle - Signal transduciton
Metarhodopsin II activates Transducin (G protein) Transducin = cGMP PDE activation cGMP PDE = cGMP --> GMP GMP = Decreased Na/Ca influx = decreased Na/Ca = decreased Glutamate = Visual perception
110
Visual cycle - recovery
Decreased Ca causes increased cGMP formation Decreased Ca --> Recoverin protein --> inhibition of cGMP PDE --> Increased cGMP Breakdown of Metarhodopsin
111
Retinitis Pigmentosa
Vision impairment, starts with impaired twilight vision Can lead to rod and cone degeneration Inherited disorder, genetic mutations in opsin, cGMP PDE, Na/Ca channels
112
Vit A deficiency
Developmental Defects Dry skin via increased keratinization --> GI/lung infections Breakdown of eye tissue Bitots spots BLINDNESS
113
Vit A toxicity
Bone pain, dermatitis, hepatosplenomegaly Due to excess unbound retinol Red/orange skin, hair loss, anorexia, osteoporosis/HyperCa, cerebral edema
114
GHRH and GHIH signal transduction
GHRH: Gs protein --> increase cAMP --> PKA --> CREB --> Increase GH GHIH: Gi protein --> decrease cAMP
115
GH stimuli
Exercise Stress HYPOglycemia Sleep
116
GH inhibitors
Hyperglycemia Increased FA
117
GH receptor and signal transduction
No receptor associated tyrosine kinase GH binds --> Dimer forms --> cross phos by TYK2 and JAK2 --> JAK2 causes STAT activation --> STAT dimerization --> bind to nuclear receptor for protein synthesis
118
GH actions
Increase AA uptake (similar to insulin) Lipolysis Gluconeogenesis Ketogenesis IGF-1 release Lower peripheral tissue glucose uptake
119
Direct IGF-1 actions
Increase cartilage and bone growth Increase muscle growth/proliferation
120
GH receptor defect
Large amount of GH Very little IGF-1 Laron dwarfism Hypoglycemia (no gluconeogenesis), no growth, excess fat storage Avoid hypoglycemia with frequent feedings, watch weight gain
121
Aldosterone MoA
Increase ENaC Increase ATP (Citrate synthase) so Na/K ATPase increases Increase Na/K ATPase protein synthesis
122
Causes of renin release
Decreased renovascular pressure sensed by renal baroreceptors Decreased BP = increased sympathetic = JG cell activation Macula Densa cells sense decreased electrolytes
123
ANP actions
Decrease Aldosterone release Vasodilation Kidney effects: Increase GFR, UV, U-Na, RBV. Decrease Renin
124
ANP receptor MoA
Activate Guanyl cyclase GTP --> cGMP ---> PKG ---> Inhibit Ca influx channel
125
Angiotensin II receptor MoA
Gq protein PLC
126
Ang II and Aldo MoA
Ang II --> receptor activation ---->--> PKC activation --> increase StAR, 18OH, Cholesterol Desmolase
127
Group IIB hormones
Increase IP3/DAG alpha1 adrenergic catecholamines Vasopressin ANG II GnRH Oxytocin TRH Calcitonin
128
Intrinsic tyrosine kinase hormones
Insulin IGF-1 Growth factors
129
Receptor associated tyrosine kinase hormones
GH PRL
130
Increase cyclic GMP hormones
ANP
131
Cholera Toxin MoA
ADP ribosylates alpha(s) subunit to keep AC and cAMP active
132
Pertussis toxin MoA
ADP ribosylates alpha(i) subunit --> prevents dissociation so ai cant inhibit AC --> AC constitutively active

DMH-B (2 decks)

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