missed questions Flashcards
cause of splenomegaly in pyruvate kinase deficiency
red pulp hyperplasia
pyruvate kinase deficiency > low ATP > hemolytic anemia
maintenance of blood glucose during fasting
gluconeogenesis
oxaloacetate–>phosphoenolpyruvate
pentose phosphate pathway (HMP shunt) produces NADPH, which is necessary for… (4 things)?
- glutathione reduction in RBCs
- fatty acid biosynthesis
- cholesterol synthesis
- respiratory burst in phagocytic cells
enzyme necessary to break down fatty acids (beta oxidation)
acyl-CoA dehydrogenase
systemic primary carnitine deficiency
can’t transport long chain fatty acids into mitochondria
Unable to run TCA cycle (»low ATP) and unable to synthesize ketone bodies (acetoacetate) when glucose levels are low
S/S: weakness, hypotonia, hypoketotic hypoglycemia, myopathy
enzyme that metabolizes fructose in essential fructosuria
hexokinase
fructose –> fructose-6P
conditions causing RIGHT shift of oxygen dissociation curve
ACE BATs right handed: (increase in) Acid CO2 Exercise 2,3-BPG Altitude Temperature
enzyme responsible for pigmented gallstones
beta glucuronidase
enzyme with INCREASED activity in Lesch-Nyan
Phosphoribosyl pyrophosphate amidotransferase (PRPP amidotransferase)
Function of ApoE
chylomicron remnant uptake by liver cells
classic galactosemia
absence of galactose-1-phosphate uridyltransferase
converts galactose-1-phosphate to UDP-galactose
accumulation of galactitol (causes cataracts), failure to thrive, jaundice, hepatomegaly, intellectual disability
tx: exclude galactose and lactose from diet
most abundant amino acid in collagen
glycine
location of oxidation of very long chain fatty acids (VLCFA) and phytanic acid
peroxisomes
alcoholic with Wernicke encephalopathy:
vitamin deficiency
B1 (thiamine)
enzymes that require cofactor B1
- pyruvate dehydrogenase
- alpha-ketoglutarate dehydrogenase
- branched chain alpha-ketoacid dehydrogenase
- transketolase (PPP)
essential cofactor in phenylalanine metabolism
tetrahydrobiopterin (BH4)
enzyme that generates the cofactor for phenylalanine metabolism
dihydropteridine reductase
difficulty breathing, chills, pain in chest and back and hemoglobinuria following blood transfusion
acute hemolytic transfusion reaction
type II hypersensitivity (antibody-mediated)
complement-mediated cell lysis
prevention of calcium stones in kidney
potassium citrate
hypertension, hypokalemia
high renin, high aldosterone
secondary hyperaldosteronism: renovascular HTN, malignant HTN, renin-secreting tumor (JG cells), diuretic use
hypertension, hypokalemia
low renin, high aldosterone
primary hyperaldosteronism: aldosterone-producing tumor; bilateral adrenal hyperplasia
hypertension, hypokalemia
low renin, low aldosterone
non-aldosterone causes: congenital adrenal hyperplasia, deoxycorticosterone-producing adrenal tumor, Cushing syndrome, exogenous mineralocorticoids