Exam 2 - Diseases + Stuff Flashcards by Art F

PDH deficiency will result in:

pyruvate builds up and is converted into lactate = lactic acidosis = neurological problems

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beri-beri

polished rice diet - due to poor diet (OLD, POOR PEOPLE & ALCOHOLICS) - no Thiamin for PDH activity. neuromuscular symptoms= muscle atrophy and weakness.

Also need thiamine for PPP.

dry= no fluid retention and wet=fluid retention -edema and cardiac failure

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sources of Acetyl COA

Carbs, fats, proteins

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type I diabetes and CAC connection

excessive supply of acetyl-Coa maybe bc of fatty acid break down.ketone bodies. not good in high concentrations

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4 ETC complexes

NADH -CoQ reducatase (NADH)
Succinate-CoQ reducatase (SUCCINATE)
Cytochrome C reductase (COQH2)
Cytochrome C oxidase (CYT C)

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Cyanide and CO inhibit which complex?

IV - cyt c Oxidase

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dinitrophenol effect on ETC

binds H+ accumulated in the periplasmic space (intermembrane) and brings it into the matrix = heat. No OX PHOS.

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adenine nucleotide translocase

exchanges ADP for ATP so that ATP get get into cytosol from mitochondria

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fixing CN poisoning

administer thiosulfate to turn CN into nontoxic SCN

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LHON, MERRF, and MELAS are what kind of disorders

mitochondrialencephalomypathies - mutations in mitochondrial genes for ETC proteins

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HbA1c indicator

amount of Hb bound to sugar - indicator of long term sugar control in diabetic

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reducing sugar test

tests for sugar in urine

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maltose=

glucose + glucose

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lactose=

glucose + galactose

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sucrose=

glucose + fructose

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pyruvate kinase deficiency

deprives RBC of ATP = lysis bc membrane potential cant be upheld

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fructose intollerance

deficincy in aldolase B.
fructose 1 phos accumulates in the liver and uses up phos pools - liver damage

FYI if def in fructokinase its ok bc fructose isnt trapped in cell and can be peed out

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galactosemia

defect in pretty much any enzyme will result in either swelling due to accumulation of galacitol (first enzyme - galactokinase) or any other enzyme will result in accumulation and use of pho pool = liver damage

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arsenic

inhibits glycerol phos dehydrogenase - glycolysis skips steps and wont produce any ATP

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cell needs ribose phos and NADPH

glucose enters PPP - stimulated by low levels of NADPH (oxydative phase)

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cell needs more ribose phose than NADPH (rapidly dividing cells)

NADPH concentration is high so oxydative PPP pathway is blocked- glucose moves forward via glycolysis – F-6-p & GAP converted reversibly into needed pentose phos

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cell needs more NADPH than ribose phos (adipose tissue)

low NADPH concentration stimulate oxydative phase of PPP for glucose. NADPH produces and pentose phos generated. pentose phos goes through non-ox phase to convert extra ribose phos into F-6-p and GAP which goes through oxy steps again for more NADPH

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cell needs NADPH and ATP

low NADPH stimulates ox phase of PPP = NADPH. non-ox phase generates f-6-p and GAP which go through glycolysis for ATP

G-6-P dehedrogenase deficiency

PPP is limited in generating NADPH for the reduction of glutathionine in RBC - RBC beocome sensitive to H2O2 levels = hemolysis - common in african american male population

Van Gierke disease

defect in glucose 6 phosphatase - liver and kidney incapable of exporting glucose = hypoglycemia and increased liver glycogen stores

Pompe disease

deficiency of acid maltase (alpha glcosidase) - needed for degredation of glycogen - glycogen slowly accumulates in the the lysosome. Lisosmes fill with glycogen = cell death. cardiac or respiritory failure

cori disease

defect in glycogen debranching enzyme - glycogen granules grow large bc only outer layers of deposits can be degraded

McArdle Disease

issue with muscle glycogen phosphorylase so muscle cant utilize its glycogen stores = accumulation of glycogen in muscles = muscle cramps due to lack of energy bc no glycogen

typical presentation of a patient with glycogen storage disease

muscle weakness and exercise intollerance

how to make: 1) UDP gal 2) mannose 6- p 3) UDP-fructose

1) from UDP-g 2) from f-6-p 3) from UDP-mannose

muccopolysaccharidosis (MPS)

results from a defect in just one of the usually many proteoglycan degrading enzymes. If enzyme is messed up products accumulate in lysosomes = skeletal deformation of face, intellectual disability and shortened lifespan

Energy USE RBC

GLUCOSE - can do glycolysis, fermentation, and PPP

Energy USE Muscle and Heart

GLUCOSE - glycolysis, glycogen, OX PHOS, PPP

Energy USE of adipose tissue

glucose, fat, - glycolysis, FA-synthesis, PPP, glycogen, OX PHOS

ENergy USE of the LIVER

glucose fat - does everything including gluconeogenesis

linolenic acid

omega 3

linoleic acid

omega 6

alpha oxidation

in mitochondria ER and peroxisomes = used for branched FA - degrades ONE CARBON at a tim with CO2

FA degredation in peroxisomes

produce H2O2 in first step and no FADH produces. usually just for long chain FA

HMG COA is a precursor for:

ketone bodies in fasting state and cholesterol in well-fed state

commitment step for ketone synthesis

HMG CoA lyase

carnitine deficiency

cant import into mitochondria. limits long chain fats as energy source for body = fasting hypoglycemia

MCAD deficiency

most common- issue with medium chain acetylcoa dehydrogenase - cant degrate medium chains - non-ketotic hypoglycemia

alpha oxidation defect

Refsums disease- phytanic acid accumulates in blood and tissues = neurological issues

peroxisomal problems w/ FA

Zellwegers - accumulation of long chain FA - increase in 24 and 26 long FA chains

acute fatty liver of pregnancy is caused by defective

long chain acetylcoa dehydrogenase

elongation of FA occurs in

ER or mitochondria

Elongation occurs at carboxy or omega end?

CARBOXY

desaturdation of FA occurs in the:

ER only - P450 enzyme mods C9, C4 and C5.

TAG fatty acids C1- C2- and C3?

C1= stearoyl COA C2=oleolyl COA C3=palmitoyl Coa

citrate cleavage pathway

transports excess acetyl COa out of mitochondria via tricarboxylic acid transporter - combines citrate and OAA to make citrtate.. hence the name

Elongation in ER uses

Malonyl Coa and CO2 released

elongaion in mitochondria

uses acetyl Coa and its like B-oxydation

leukotrienes

LTD4 and LTC4 have to do with airways - blocking =helpingwith asthma

thromboxanes and prostaglandins

inhibited with NSAIDS = inflamatory response arachadonic acid cleaved from C2 of DAG converted into prostaglandins and into thromboxane = inflamatory process

REspiritory distress syndrome

not enoughs urfactant bc child premature

Gauchers Disease

B-glucosidase is defective and cant degrade glycolipids - accumulate in liver, spleen, CNS and bone - Ceramide-Glu bond cant be broken