Test 17- BC Flashcards
Vitamin overuse that results in intracranial HTN, dry skin and hepatosplenomegaly, pseudotumor cerebri.
Vit A
Individuals who consume more than 10x RDA can develoip toxicity and suffer hepatic injury> cirrhosis.
Vitamin overuse that results in nausea, vomiting, vertigo, blurred vision.
Acute toxicity
Vitamin use that causes cleft palate and cardiac abnormalities.
Isotretinoin
Night blindness, corneal degeneration, bitot spots.
Vit A def
Cheiolosis, stomatitis, glossitis, dermatitis, corneal vascularization.
Vit B2 def
Large doses of this vitamin can lead to false negative stool guaiac results, diarrhea and abdominal bloating and oxalate nephrolithiasis.
Vit C
Large doses of this vitamin can cause higher mortality d/t hemorrhagic stroke in adults and necrotizing enterocolitis in infants.
Vit E
ENHANCES anticoagulant affects of warfarin.
Excess orotic acid in the urine. Hypochromic megaloblastic anemia, neuro abnormalities, growth retardation.
Orotic aciduria d/t impaired pyrimidine synthesis
How do you improve sxs in a pt with orotic aciduria?
Uridine supplementation improves sxs by inhibiting carbamoyl phosphate synthetase II and bypassing deficient enzyme
Defect in HGPRT leads to purine bases (hypoxanthine and Guanine) not recycled and an increase in Uric Acid.
Lesch Nyhan syndrome
What must be increased to replace the lost bases (hypoxanthine and Guanine) in Lesch Nyhan?
De novo purine synthesis
phosphoribosyl pyrophosphate amidotransferase
Hyperuricemia, gout, agression and self mutilation, retardation and dystonia.
Lesh Nyhan
Hyperuricemia Gout Pissed off (self mutilation) Retardation dysTonia
What can be used to treat a pt with defects in the urea cycle?
Protein restriction (balance dietary protein intake w/ protein output)
Decreased exercise tolerance, myoglobinuria (red urine), muscle pain w/ physical activity. Good prognosis.
Myophosphorylase def (McArdle’s syndrome)
Failed glycogenolysis
Severe fasting hypoglycemia, increased glycogen in the liver, increased uric acid and hepatomegaly.
Von Gierke
Cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance, early death.
Pompe (pompe trashes the PUMP…heart, liver, muscle)
Milder form of Von Gierke (I) w/ normal blood lactate levels.
Cori disesase
All three prokarytotic DNA Pol have proof reading activity and remove mismatched NUCLEOTIDES via…
3’ to 5’ exonuclease activity
What DNA pol has 5’ to 3’ exonuclease activity which is used to replace RNA primers and damaged DNA sequences?
DNA Pol I
What leads to the accumulation of pheynlalanine in in body fluids and the CNS?
Def in phenylalanine hydroxylase or its cofactor BH4
PKU!!!
(First step in catecholamine synthesis)
Infant is normal at birth but gradually develops severe intellectual disability and seizures w/out treatment. Also has hypopigmentation of skin, hair and eyes.
PKU
Phenylalanine inhibits melanin synthesis.
Excess phenylalanine contributes to brain damage.
Catalyst of decarboxylation of the alpha-ketoacid derivatives of all 3 branched chain AA: Leucine, isoleucine and valine.
Maple syrup urine disease
Branched chain ketoacid dehydrogenase
Enzyme that catalyzes NE from Da?
Dopamine hydroxylase
Def in homogentisate oxidase
Alkaptonuria> large amts of homogentisic acid> hyperpigementation and degenerative joint diseaes
How do you prevent tumor lysis syndrome?
Hydration and use of hypouricemic agents like allopurinol or rasburicase
Hyperphosphatemia, hypocalcemia, hyperkalemia, hyperkalemia, hyperuricemia
works in acetaminophen overdose by enhancing glutathione productionand conjugation of the toxic NAPQI metabolite.
N acetylcysteine
Receptors and pathway for: CSF, prolactin, GH, cytokines
TK receptors and JakStat pathway
How do you determine if someone is a carrier for sickle cell disease?
Hemoglobin electrophoresis
Hemoglobin S can be distinguished because it moves slowly compared to normal Hb d/t loss of negatively charged glutatmate
Fever, leukocytosis, HYPOtn, tachycardia
Septic shck
Why are elderly pts w/ dementia and hemiparesis at risk for aspiration pneumonia?
They may also have dysphagia
opacities in superior regions of LOWER lobes
What is an essential cofactor in the synthesis of tyrosine , DOPA, 5HT and NO?
BH4
What converts BH2 to BH4?
Dihydrobiopterin reductase
What is seen in atypical PKU with tyrosine supplementaiton?
Only the catecholamine syntehsis rxns down stream of tyrosine are compromised
What converts NE to Epi?
PNMT (requires SAM)
Tyrosinase def leads to…
albinism (inability to produce melanin)
Why is HCV genetically unstable?
It lacks proofreading 3’>5; exonuclease activity in its RNA pol and its envelope glycoprotein has a hypervariable region that is prone to frequent genetic mutation.
