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Fundamentals 1 Flashcards

1
Q

Type 1 Diabetes

A

No insulin is made (pancreas is attacked – autoimmune disorder, potentailly) no insulin produced in pancreatic beta cells -> liver acts as if body is always in starvation state -> hyperglycemia plus gluconeogenesis, limited glucose uptake in muscle/adipose - also ketone bodies are produced (liver thinks it is starved because there is no insulin) – DKA w/out insulin

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2
Q

Type 2 Diabetes

A

Insulin level are normal:

Receptor defects
Processing
Reduced Kinase Activity
Immune system defects
Type A : antibodies to insulin. No free insulin available to bind to receptor
Type B : antibodies to insulin receptor, such that either insulin binding is blocked, or the antibody itself is stimulatory
Obesity related diabetes (down-regulation of insulin receptors; related to metabolic syndrome

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3
Q

IV fructose

A

low phosphate/Energy
elevated uric acid, lactic acidosis
Hypoglycemia

Lots F1P

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4
Q

essential fructosuria

A

fructosekinase can’t phosphorylate fructose

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5
Q

Hereditary fructise intolerance

A

no aldolase B, F1P backs up and inhibits glycogen phosphorylase; no degradation

can’t have fructose
low phosphate/Energy
high uric acid / lacitc acidosis
hypoglycemia (F1P inhibits the Glycogen Phosporylase)

(this often present when a child switches from breat milk to juice, resulting in hypoglycemia)

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6
Q

lactase deficiency

A

bad lactase

can’t have lactose, diarrhea, flatulence, stomach pain

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7
Q

classical galatosemia

A

no gal-1p uridylyl transferase

high blood galatose and galatitol – cataracts and mental retardation; hypoglycemia (note: gal-1P looks like G1P so no degrdation of G1P into glucose will occur)

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8
Q

nonclassical galactosemia

A

no galactokinase

high blood galactose/galactitol; cataracts (less severe than classical galactosemia as the nervous sytem is uneffected)

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9
Q

pyruvate kianse deficiencey

A

sugar enzyme (converts phosphoenol pyruvate to pyruvate producing an ATP

no pyruvate made

Hemolytic Anemia – not a great enough energy supply for the RBC

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10
Q

pyruvate dehydrogenase deficiency (Leigh Syndrome)

A

sugar enzyme – connecting glycolysis to the TCA cycle converting pyruvate into acetyl-CoA

no Acetyl-CoA made

LEthargy
Neuro Problems, Seizures
Poor Muscle Tone
Ataxia

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11
Q

TCA/OxPhos disease

A

mitochondrial/nuclear genome

muscle/nerve problems

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12
Q

Primary Carnitine Deficiency

A

lack of/defective membrane carnitine transporter (translocase) prevents carnitinve entry into cells, unable to transport FAs into mitochondria to make energy — causes weakness, cramping, fasting hypoglycemia,Triacyl-Glyeride accumulation in the muscle/liver cytoplasm (DHAP pathway), elevated Urine carnitine levels

might be treatable with axogenous carnitine to overcome the higher Km of the transporters

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13
Q

Secondary Carnitine Deficiency

A

defect in Carnitine-Acyl-Transferase-2 (CAT 2 or CPT 2), the carnitine cannot be removed from the FA inside the mitochondrai. Therefore the carnitine is stuck within the mitochondria bound to the FA and there is no free Carnitine. Therefore FA oxidation is blocked. This causes muscle weakness, cramping, fasting hypoglycemia, triacyl-glycerol accumulation in msucle/livercytoplasm; we ill also see elevated serum acyl-carnitine levels

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14
Q

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)

A

fatty acid enzyme disease – displayed in elevated 6-10 carbon dicarboxylic acids, hypoketotic, hypoglycemic when glycogen stores are low – functions to break down medium chain fatty acids 8-12 carbons long (This is all a result of a point mutation in which Glu si change to Lys, changing the charge of teh amino acid, therefore destabiulizing the protein causing it to have an altered function.)

dicarboxylic acids build up; fasting hypoglycemia

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15
Q

Glucose-6-Phosphate dehydrogenase Deficiency

A

Enzyme for the HMP pathway which produces NADPH is lacking, Glutathione not replinished

X-linked, hemolytic anemia (bursting RBCs)

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16
Q

Adenosine deaminase deficiency (ADA)

severe combined immunodeficiency (SCID)

A

nucleotide salvage

no immune system cells (B or T cells)

Pneumonia, Diarrhea, Skin Rashes

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17
Q

Gout

A

to many purines

uric acid builds up; crytals resulting in inflammation

Reduce Purine Intake. Don’t eat liver. Also, Allopurinol is a Xanthine Oxidase Inhibitor which blocks the production or uric acid

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18
Q

Lesch-Nyhan Syndrome

A

nucleotide salvage

missing hypoxanthine guanine phosphoribosyltransferase 1 (HGPRT) – can’t salvage hypoxanthine/guanine

Neuro symptoms

Mental Retardation, Self-Mutilation

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19
Q

Hereditary Orotic Aciduria

A

pyrimidine synthesis problem

Missing UMP synthase (Orotic phosphoribosyl transferase + OMP decarboxylase)

Retarded growth, anemia and excessive urinary excretion of orotic acid

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20
Q

hyperammonemia

A

AA metabolism –> Often a urea cycle problem

ammonia in the blood

Elevate ammonia in the blood which can lead to several complications, including neurological problems

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21
Q

PKU (PhenylKetoUrea)

A

henylalanine cannot be converted –> Tyrosine

Phenylalanine Hydroxylase

Mental Retardation, Behavioral Problesm, Seizures, Hyperactivity, stunted growth (microcephaly) and skin rashes

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22
Q

Maple Syrup Urine Disease (MSUD)

A

leucine, isoleucine, valine

Bracnched Chain Amino Acids are Trans-aminated, but not carboxylated

Urine Smells like Maple Syrup

Damage to the Brain can occur during times of high physical exertion (exercise, fever, infection)

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23
Q

tyrosinemia

A

tyrosine

Delayed Enzyme maturation in the catabolic tyrosine

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24
Q

Homocysteinemia

A

methionine synthase, N5-N10TF reductase, B-Cystathionien synthase

Also from B12, Folate and B6

atherosclerosis – promotes plaques (increases smooth muscle growth, while decreasing epithelial tissueg rwoth)

Thrombosis (because homocysteine interfers with the clotting cascade)

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25
pallegra
Missing nicotinomide (niacin) No NAD+; 4 D's: dermatitis, dementia, diarhea, death
26
Cholera
Toxin blocks Gs constant activation of the G-protein cascade Diarrhea
27
Pertussis
toxin blocks Gi no Inhibition of G-protein cascade
28
BerBeri (Overview) -- frequent in alcoholics as they do not absorb Thiamine well
B1 deficiency, no Thiamine; problems with TK, PDH, aKGDH enzymes don't work --n o decraboxylation (E3) Wet: heart, edema, cofusion, nystagmus Dry: peropherial neuropathy
29
Wernicke Korsacoff (Dry BeriBeri)
Thiamine deficient from alcohol Neural disfunction: nystagmus, edema, confusion, ataxia (random movememnts)
30
Drug Tolerance
Increased cycP450 activity Drugs clear faster
31
Aspirin Over Dose
run out of NADPH to reduce glutathione to neutralize the toxin
32
Barbituate toxic
ethanol mixed will inhibited cycP450
33
Familial Lou Gherig's (ALS)
no superoxide dis mutase -- radical O2 species destroy tissues, genetic origin slow break down of nerves/muscles
34
MODY (maturity onset diabetes of the young)
no glucokinase in pancreaseb eta-cells; no ATP;potassium channel does not stop, therefore calcium does not enter the cells, no insulin is produced by the pancreatic Beta-Cells.
35
B6 deficiency (pyridoxyl phosphate)
no phosphorylase, no glycogen breakdown, no homocysteine breakdown
36
Arsenic Poisoning
Arsenic targets lipoic Acid no PDH, aKGDH, garlic breath, rice water stool and vomiting no activity of: phosphoglycerate kinase or glyceraldehyde-3-phosphate dehydrogenase
37
Malonate
competes with succinate for succinate dehydrogenase interfering with fumurate production Low fumarate
38
Fluoroacetate
blocks aconitase low isocitrate (citrate build-up, slowing glycolysis and promoting FA production)
39
Oligomycin
blocks F0 channel of ATP synthse
40
DCCD
DCCD
41
thermogenin (natural for heat in babies and some animals)
Uncoupler, destroys the hydrogen ion gradient weight loss, warmth, no energy, death if great amount
42
weight loss, warmth, no energy, death if great amount
Uncoupler, moves potassium ions, destroys the gradient
43
dinitrophenol (diet pill)
Uncoupler
44
Rotenone
No Fe-S to CoQ in complex 1
45
Antimycin A
Cytochrome C can'ta ccept electron, complex 3
46
Cyanide/C=O
no Fe binding in complex 4`no Energy
47
Atractyloside
no ATP leave, no ADP
48
Kearns Sayre Syndrome (KSS)
Mitochondrial DNA deletion muscle/nervous system problems -- eyes
49
Pearson Syndrome
Mitochondrial DNA deletion marrow (bone)/pancreas problems + KSS problems
50
MERRF (myoclonic epilepsy and ragged red fiber)
epilepsy and red, jagged muscles
51
MELAS (mitochondrial myopathy, encephalomyopathy, lactic acidosis + storke-like symptoms
muslce weakness, headaches, seizures, strokes,\, keto acidosis
52
Leigh Syndrome
missence in mitochondrial DNA, ATP synthase (basically can't make ATP synthase because of mutation, so you can't make ATP. Resulting in decreased energy production SEVERE neurol effects, early death (1-2 years), lactic acidosis
53
LHON (leber hereditary optic neuropathy)
missence in mitochondrial DNA --> complex1 eye nerves stop working ==> blindness
54
ETF deficiency
fatal. Can't get energy from FADH2 produced upon FA oxidation Symptoms are exagerated during fasting
55
ETF:CoQ oxidoreductase
fatal. Can't get energy from FADH2 produced upon FA oxidation
56
Zellwegaers syndrome
defect inperoxisome biogenesis ==> no peroxisomes No peroxisomes no VLCFA or BCF breakdown, therefore VLCFA and BCFA are incorporated into the membranes of cells, causing disruption and leaky membranes ==> this results in multiple organ failure (nervous system, too) in addition to plasmalogen deficiencies
57
Refsum disease
no phytanic acid (branched chain) oxidase --> no alpha oxidation or branched chain fatty acids metabolism BCFA accumulation accumulation of phytanic acid in myelin sheath disrupts neuronal conductance
58
Adrenoleukodystrophy (ALD)
mutated ABCD1 VLCFA transporter into the peroxisome --> accumulation of VLCFA in the cytosol disrupting adrenal and nervous function --- major cause is X-linked disorder ==== Noted: there are infantile, young child and late-onset forms
59
Jamaican Vomiting Disease
hypoglycin toxin from unrip ackee fruit, block short and medium chain acyl-CoA dehydrogenase activity causing severe hypoglycemia due to lack of FA oxication, resulting in elevated serum FA and dicarboxylic acid levels, this can also result in a carintine deficiency because all of the carnitine is bound to SCFAs, MCFAs, therfore the peroxisome is unable to transport in LCFAs for oxidation
60
Sphingolipidoses
all are lysosomal storage diseases
61
generalized gangliosidosis
no GM1-beta-galactosidase; causes mental retardation, hepatomegaly, skeletal deformities, accumulation of gangliosides & mucopolysaccharides fatal, autosomal recessive -- keep it mind that GM1 is the first one we break down in the series
62
Tay-Sachs disease
no hexosaminidase A; causes mental retardation, blindness, muscular weakness, seizures; accumulation of GM2 (300x) and GA2 (20x, asialo derivative), cherry-red spot in normally yellow/white macula of eye -- mutation in the alpha subunit affects the Hex A (doesn't affect Hex B) fatal, autosomal recessive, higher incidence in Ashkenazi Jewish Eastern European community
63
Fabry's disease
no alpha-galactosidase; reddish-purple skin rash, kidney failure, lower extremity pain, accumulation of galactolactosylceramide only X-linked recessive lysosomal storage disease, not fatal
63
Fabry's disease
no alpha-galactosidase; reddish-purple skin rash, kidney failure, lower extremity pain, accumulation of galactolactosylceramide only X-linked recessive lysosomal storage disease, not fatal
64
lactosyl ceramidosis (ceramide lactoside lipidosis)
no lactosylceramide beta-galactosidase; brain damage, heptaosplenomegaly, accumulation of lactosylceramide
64
lactosyl ceramidosis (ceramide lactoside lipidosis)
no lactosylceramide beta-galactosidase; brain damage, heptaosplenomegaly, accumulation of lactosylceramide
65
Gaucher's disease
no glucocerebroside beta-glucosidase; hepatosplenomegaly, erosion of long bones/pelvis, infantile form has mental retardation, accumulation of glucosylceramide autosomal recessive, some forms are fatal; has genotype-phenotype correlation where expression of symptoms/severity depends on where mutation is in protein (or in activating proteins)
65
Gaucher's disease
no glucocerebroside beta-glucosidase; hepatosplenomegaly, erosion of long bones/pelvis, infantile form has mental retardation, accumulation of glucosylceramide autosomal recessive, some forms are fatal; has genotype-phenotype correlation where expression of symptoms/severity depends on where mutation is in protein (or in activating proteins)
66
metachromatic leukodystrophy
no aryl-sulfatase A; mental retardation, demyelination, progressive paralysis & dementia, accumulation of galactosylceramide-sulfate
66
metachromatic leukodystrophy
no aryl-sulfatase A; mental retardation, demyelination, progressive paralysis & dementia, accumulation of galactosylceramide-sulfate
67
Krabbe disease
no galactoceramide beta-galactosidase; mental retardation, total absence of myelin, particle accumulation in brain, accumulation of galactosylceramide
67
Krabbe disease
no galactoceramide beta-galactosidase; mental retardation, total absence of myelin, particle accumulation in brain, accumulation of galactosylceramide
68
Niemann-Pick disease
no sphingomyelinase; mental retardation, hepatosplenomegaly, accumulation of sphingomyelin , fatal early in life
68
Niemann-Pick disease
no sphingomyelinase; mental retardation, hepatosplenomegaly, accumulation of sphingomyelin , fatal early in life
69
Farber's disease
no ceramidase; painful deformed joints, accumulation of ceramide fatal early in life
69
Farber's disease
no ceramidase; painful deformed joints, accumulation of ceramide fatal early in life
70
Sandhoff's Activator disease
missing activator protein required for hexosaminidase A function, causes accumulation of GM2 (Tay-Sachs-like)--
70
Sandhoff's Activator disease
missing activator protein required for hexosaminidase A function, causes accumulation of GM2 (Tay-Sachs-like)--
71
Respiratory Distress Syndrome
in premature newborns with lack of surfactant treated with injection of lung surfactant (contains di-palmitoyl-PC)
71
Respiratory Distress Syndrome
in premature newborns with lack of surfactant treated with injection of lung surfactant (contains di-palmitoyl-PC)
72
alcohol dehydrogenase variations
isozyme of aldehyde dehydrogenase with low Vmax -> slower ethanol metabolism -> bigger hangover sooner
72
alcohol dehydrogenase variations
isozyme of aldehyde dehydrogenase with low Vmax -> slower ethanol metabolism -> bigger hangover sooner
73
Wernicke-Korsakoff/Beriberi
B1
73
Wernicke-Korsakoff/Beriberi
B1
74
Rickets
Vitamin D
74
Rickets
Vitamin D
75
Bleeding Disorder
Vitamin K
75
Bleeding Disorder
Vitamin K
76
Megaloblastic Anemia
Vitamin B12 ro Folate
76
Megaloblastic Anemia
Vitamin B12 ro Folate
77
Vit A deficiency
vit A/carotenoid def; bad retina pigment, epithelials night blind, dry skin
77
Vit A deficiency
vit A/carotenoid def; bad retina pigment, epithelials night blind, dry skin
78
Cystinuria
bad C,K,R, ornithine transport, cystines in urine kidney stones Blood in Urine Flank Pain
78
Cystinuria
bad C,K,R, ornithine transport, cystines in urine kidney stones Blood in Urine Flank Pain
79
Hartnups
impaired transport of neutral amino acids on the apical brush border. bad neutral transporter; low Trp, low NAD impaired transport of neutral amino acids on the apical brush border. bad neutral transporter; low Trp, low NAD
79
Hartnups
impaired transport of neutral amino acids on the apical brush border. bad neutral transporter; low Trp, low NAD impaired transport of neutral amino acids on the apical brush border. bad neutral transporter; low Trp, low NAD
80
Pellagra
Niacin defficient 4D's dementia, diarrhea, dermatitis, death
80
Pellagra
Niacin defficient 4D's dementia, diarrhea, dermatitis, death
81
Alcaptonuria
no split of homogentisic acid in phenylalanine degrade black urine, arthritis
81
Alcaptonuria
no split of homogentisic acid in phenylalanine degrade black urine, arthritis
82
PKU (phenyl-ketonuria)
no Phenylalanine hydroxylase or THB (no F to Y) F and Phenylalanine-pyruvate builds up; block LNHA transport to CNS retardation
82
PKU (phenyl-ketonuria)
no Phenylalanine hydroxylase or THB (no F to Y) F and Phenylalanine-pyruvate builds up; block LNHA transport to CNS retardation
83
Tyrosinemia Type 1
cabbage odor, vomit, no thrive, liver fail, death
83
Tyrosinemia Type 1
cabbage odor, vomit, no thrive, liver fail, death
84
Tyrosinemia Type 2
neuro, eye/skin lesions
84
Tyrosinemia Type 2
neuro, eye/skin lesions
85
Homocystinuria
no Cystathione B Synth, Methionine Synth or Methylene THF reductase; inc smooth musc growth, dec endothelial growth inc atherosclerosis and heart prob risk, retardation, osteoporosis, optic lens detach
85
Homocystinuria
no Cystathione B Synth, Methionine Synth or Methylene THF reductase; inc smooth musc growth, dec endothelial growth inc atherosclerosis and heart prob risk, retardation, osteoporosis, optic lens detach
86
Folate Def. (B9)
low folate, no THF, no purine/pyrimidine synth megaloblastic anemia, neural tube defect
86
Folate Def. (B9)
low folate, no THF, no purine/pyrimidine synth megaloblastic anemia, neural tube defect
87
PNP deficiency
no Purine Nucleoside Pase, inc dGTP, no T cell partial immuno deficiency, hypouricemia
87
PNP deficiency
no Purine Nucleoside Pase, inc dGTP, no T cell partial immuno deficiency, hypouricemia
88
Porphyria
photophobic, skin damage, anemic, intermitant mental status changes
88
Porphyria
photophobic, skin damage, anemic, intermitant mental status changes
89
no Ornithine Transcarboxylase
hyperammonemia and orotic aciduria
89
no Ornithine Transcarboxylase
hyperammonemia and orotic aciduria
90
no N acetylglutamate
no active CPS-1 no urea cycle, inc ammonia, early death
90
no N acetylglutamate
no active CPS-1 no urea cycle, inc ammonia, early death

Biochem Diseases (1 decks)

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