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60 Cards in this Set

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what is NADPH used in? (4 rxns)
1) Anabolic processes
2) Respiratory Burst
3) P-450
4) Glutathione reductase
Differences between hexo and glucokinase
Hexo: Ubiquitous, high affinity, inhibited by glucose-6-phosphate

Glucokinase: liver and B-cell of pancreas, low affinity, no direct inhibition, induced by insulin
list the pyruvate dehydrogenase coomplex:
1) pyrophosphate (B1)
2) FAD (b2)
3) NAD (B3)
4) CoA (b5)
5) lipoic acid
vomiting, rice water stools, garlic breath?
arsenic poisoning

what does arsenic inhibit?
lipoic acid in pyruvate dehydrogenase complex)
how do you fix pyruvate dehydrogenase deficiency?
increase intake of ketogenic nutrients

what are the only purely ketogenic AAs?
lysine and Leucine
directly inhibit electron transport in ox phos causing a decreased proton gradient and block of ATP synthesis
rotenone, CN-, antimycin A, CO
directly inhibit mitochondrial ATPsynthase in ox phos causeing an increased proton gradient
oligomycin
increase the permeability of the mito membrane which consumes oxygen but produces heat since electron transport continues despite no ATP made
thermogenin (brown fat), aspirin, 2,4-DNP
irreversible enzyme in gluconeogenesis and their locations
pyruvate carboxylase: mitochondria
PEP carboxykinse: cytosol
Fructose 1,6-bisphosphonate: cytosol
glucose 6-phosphatase: ER
why can muscle not participate in gluconeogenesis?
it lacks glucose 6-phosphatase
sites of the HMP shunt
lactating mammary gland, liver, adrenal cortex, RBCs

point?
to use abundant glucose- 6 phosphate as a source for NADPH
what are chronic granulomatous dz pts at risk for and why?
infection by catalase positive bug (s. aureus, aspergillus) since these bugs neutrilize their own peroxide thus leaving WBCs without ROIs for fighting the infeciton
fructose in urine and blood
essential fructosuria due to a defect in fructokinase

ASYMPTOMATIC since fructose doesn't enter cells
hypoglycemia, jaundice, cirrhosis, and vomiting
aldose B deficiency leading to Fructose intolerance

fructose 1-phosphate accumulates leading to less phosphate so less glycogenolysis and gluconeogenesis
failure to track items or develop a social smile
infantile cataracts due to Galactokinase Deficiency

galactose in urine and blood
failure to thrive, jaundice, hepatomegaly, infantile cataracts, mental retardation
Classic galactosemia due to absence of galactose 1-phosphate uridyltransferase
where does sorbitol damage occur and why?
osmotic damage, Schwann cell (periph neuropathy), lens, retina (retinopathy), and kidney (nephropathy) since they only have aldose reductase it accumulates and no sorbitol dehydrogenase like in other areas
acidic aa?
asp and glu
basic aa?
lys, arg, his
Glucogenic aa?
met, val, arg, his
glucogenic/ketogenic:
ile, phe, thr, trp
tremor, slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision
Ammonia intoxication

what does that do?
how do you treat it?
depletes alpha ketoglutarate leading to inhibition of TCA cycle

lactulose to acidify GI and trap NH4+ for excretion
hyperammonemia, low BUN, orotic acid in blood
ornithine transcarbamoylase deficiency
derivatives of phenylalanine
tyrosine, thyroxine, dopa, melanin, dopamine, norepi, epi
derivatives of tryptophan
niacin, seratonin, melatonin
derivatives of glycine
porphyrin, heme
breakdown products of
Dopamine?
Norepi?
Epi?
HVA
VMA
Metanephrines
mental retardation, growth retardation, seizures, fair skin, eczema, musty body odor
PKU

treatment?
no phenylalanine
tyrosine becomes essential
dark connective tissue, brown sclera, urine turns black, arthralgias
alkaptonuria/ochronosis

pathogenesis?
deficiency in homogentisic acid oxidase leading to a buildup of tyrosine
causes of variable inheritance albinism?
1) deficiency of tyrosinase
2) deficiency of tyrosine transporters
3) faulty migration of neural crest cells
4 mechanisms of AR homocystinuria (leading to excess homocysteine)
1) cystathionine synthase deficiency
2) less affinity of cystathionine synthase for pyridoxal phosphate
3) homocysteine methyltransferase def
4) vitamin B12 def
mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation and atherosclerosis
homocystinuria
defect of renal tubular amino acid transporter for cystein, ornithine, lysine, and arginine
cystinuria (seen in children)

treatment?
alkalinization of urine with acetazolamide
CNS defects and sweet smelling urine
maple syrup urine disease

due to what?
blockage of degradation of branched amino acids (ile, leu, val) due to low alpha-ketoacid dehydrogenase which leads to a build up of alpha keto acids in blood
What is Hartnup's disease?
defective neutral amino acid transporter on renal tubules leading to tryptophan excretion in urine

what does this lead to?
pellagra since tryptophan is a precursor of niacin
severe fasting hypoglycemia, high glycogen, hepatomegaly, elevated blood lactate
Von Gierke's Disease
Pompe's disease findings?
cardiomegaly, liver and muscle findings

deficient enz?
lysosomal aplha 1,4 glucosidase
fasting hypoglycemia, high glycogen, hepatomegaly, normal blood lactate
Cori's disease

def?
debranching enzyme
painful muscle cramps, myoglobinuria
mcardle's disease

def?
skeletal muscle glycogen phosphorylase
peripheral neuropathy, angiokeratomas, cardiovascular/renal disease
Fabry's disease

def?
alpha-galactosidase
hepatosplenomegaly, bone crises, aseptic necrosis of femus, macrophages that look like crumpled tissue paper
Gaucher's disease (most common)

Build up of what?
glucocerebroside
progressive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells
Nieman-Pick

what is deficient?
sphingomyelinase
progressive neurodegeneration, cherry red spot on macula, lysosomes with onion skin, NO hepatosplenomegaly
Tay Sachs

deficient?
buildup?
hexosaminidase A,
GM2 ganglioside
peripheral neuropathy, optic atrophy, globoid cells
Krabbe's dz

def?
beta galactocerebrosidase
demyleination with ataxia, dementia
metachromatic leukodystrophy
developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
Hurler's syndrome
deficiency in mannose phosphorylase
I-cell disease where secretion of lysomal contents goes our of cell
mental retardation, aggression, NO corneal clouding
Hunter's

hunters see clearly and aim for the X(XR)
what is the inheritance pattern of lysosomal storage diseases and glycogen storage diseases
AR

Which two are XR?
Fabry's and Hunter's
what does carnitine deficiency result in?
inability to carry the long chain fatty acids into the mitochondria to be oxidized

results in weakness, hypotonia, and hypoketotic hypoglycemia
stalling of the TCA cycle which shunts glucose and FFA toward making ketone bodies is the result of what?
oxaloacetate depletion due to prolonged starvation and diabetic ketoacidosis

in alcoholism, excess NADH shunts oxaloacetate to malate
what is the order of metabolic fuel use
ATP and Creatine phosphate used up in seconds
Anaerobic glycolisis used for minutes
Aerobic glycolysis/FA oxidation used for minutes to hours
how long does it take for glycogen stores to be depleted?
one day

what mechanisms happen after that during starvation for 1-3 days?
Adipose release of FFA, muscles shift use to FFA, hepatic gluconeogenesis from lactate, alanine, glycerol and propionyl CoA
chylomicron marker
B-48
found on surface of VLDL, IDL, LDL
B-100

does what?
binds ldl receptor
delivers dietary TGs to peripheral tissue
chylomicron

what delivers hepatic TGs?
VLDL
pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthomas, no increased risk for atherosclerosis
hyperchylomicronemia

defect?
lipoprotein lipase deficiency (or Apo C-II alteration)
accelerated atherosclerosis, tendon xanthosmas, corneal arcus
familial hypercholesterolemia

issue?
inheritance pattern?
absent or defective LDL receptors
hepatic overproduction of VLDL leads to?
elevated blood levels of TG
failure to thrive, steatorrhea, acanthocytosis, ataxia, night blindness
abetalipoproteinemia

due to?
inability to produce lipoproteins due to deficiencies in apoB48 and Apo B100 so there is an accumlation within enterocytes to due inability to export absorbed lipids as chylomicrons