Biochem diseases Flashcards
(31 cards)
what problems does alcohol toxicity cause
inc NADH/NAD+: lactic acidosis fasting hypoglycemia hepatosteatosis ketoacidosis
arsenic blocks
lipoic acid - involved in pyruvate dehydrogenase and akg dehydrogenase
symptoms of pyruvate dehydrogenase deficiency
inc alanine
lactic acidosis
treatment for PD deficiency
only ketogenic aminoacids - lysine and leucine
symptoms of methylmalonic acidemia
anion gap acidosis
ketosis
hypoglycemia
electron chain inhibitors
rotenone
cyanide
CO
antimycin A
what blocks ATP synthase directly
oligomycin
name some uncoupling agents
2,4 dinitrophenol
aspirin
thermogenin
what is deficient when someone has benign fructose in their blood and urine
fuctokinase
baby develops hypoglycemia, jaundice and vomiting after eating fruit for the first time
fructose intolerance
aldolase B deficient
treatment for aldolase B deficiency
dec fructose and sucrose in diet
galactose kinase deficiency symptoms
cataracts - no social smile, cant track objects
build up of galactitol
what is deficient in classic galactosemia
GIP UT
what infection are babies with G1P UT prone to
ecoli sepsis
treatment for G1P UT deficiency
decrease galactose and lactose
symptoms of arginase deficiency
spasticity similar to cerebral palsy
treatment for hyperammonemia
lactulose
rifaximin
benzoate
phenylbutyrate
symptoms of n acetyl glutamate synthase deficiency
hyperammonemia
poor respiration, temperature control, feeding
OTC deficiency symptoms
increased orotic acid
decreased BUN
hyperammonemia
how does OTC deficiency differ from orotic aciduria
no megaloblastic anemia
treatment for both types of PKU
increase tyrosine and BH4
decrease phenylalanine
maple syrup urine disease what is deficient
alpha ketoacid dehydrogenase
what is the treatment for maple syrup urine disease
decrease isoleucine, leucine, valine
increase thiamine
what is deficient in alkaptonuria
homogentisate oxidase
