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39 Cards in this Set

  • Front
  • Back
translation/synthesis of collagen alpha chains occurs in:
SER
cleavage of terminal regions of procollagen transforms it into insoluble:
tropocollagen
child with blue sclera and multiple fractures, appears as child abuse
osteogenesis imperfecta, abnormal collagen type I
vimentin stains
connective tissue
desmin stains
muscle
cytokeratin stains
epithelial cells
GFAP stains
neuroglia
neurofilaments stains
neurons
elastin is rich in which two amino acids
lysine and proline
fatty acid synthesis occurs where:
in the cytoplasm
urea cycle occurs where
cytoplasm and mitochondria
HMP shunt occurs where:
in the cytoplasm
heme synthesis occurs where?
in cytoplasm and mitochondria
SAM transfers
methyl units
5 cofactors needed for pyruvate dehydrogenase
pyrophosphate, FAD, NAD, CoA, lipoic acid
only purely ketogenic amino acids
leucine and lysine
gluconeogenesis irreversible enzymes
"pathway produces fresh glucose"
Pyruvate carboxylase
PEP carboxykinase
Fructose-1,6-bisphophatase
Glucose-6-phosphatase

Found only in liver, kidney, intestinal epithelium
Essential amino acids

PriVaTe TIM HALL:
phenylalanine
valine
tryptophan
threonine
isoleucine
methionine
histidine
arginine
leucine
lysine
transport of ammonium by:
alanine and glutamine
urea cycle
ordinarily careless crappers are also frivolous about urination

ornithine, carbamoyl phosphate, citrulline, aspartate, argininosuccinate, fumarate, arginine, urea
tyrosine, thyroxine, dopa, melanin, NE, and Epi derived from which amino acid
phenylalanine
niacin, serotonin, and melatonin derived from which amino acid
tryptophan
histamine derived from which amino acid
histidine
porphyrin and heme derived from which amino acid
glycine
creatinine, urea, and NO derived from which amino acid
arginine
GABA derived from which amino acid
glutamate
homocystinuria
cysteine becomes essential, excess methionine
cystinuria by which MOA:
defect in renal transporter for COLA (cys, ornithine, lys, and arg)

rx: acetazolamide to alkalinize the urine
blocked degradation of branched amino acids (Ile, Val, Leu)
due to dec alpha-ketoacid dehydrogenase

maple syrup disease
deficient glucose-6-phophate enzyme
von gierke's, liver becomes a muscle, does not produce blood glucose, only lactate
decreased lysosomal alpha-1,4-glucosidase
Pompe's trashes the Pump (heart liver, and muscle)
decreased debranching enzyme alpha-1,6-glucosidase
Cori's disease, mild von gierke's with normal lactate
decreased muscle phosphorylase
McArdle's, painful muscles
deficient alpha-galactosidase A, accumulation of ceramide trihexoside
Fabry's disease, XR. peripheral neuropathy
accumulation of glucocerebroside
Gaucher's disease (MC). hepatosplenomegaly and bone crises
deficient sphingomyelinase
Niemann-Pick disease, cherry red spot on macula
deficient hexosaminidase
Tay-Sachs, cherry red spot
accumulation of galactocerebroside
Krabbe's Disease, peripheral neuropathy, developmental delay
deficient iduronate sulfatase,
accumulation of heparan sulfate and dermatan sulfate
Hunter's syndrome, XR

mild hurler's syndrome, aggressive behavior, no corneal clouding