Test 17- BC

Question 1

Vitamin overuse that results in intracranial HTN, dry skin and hepatosplenomegaly, pseudotumor cerebri.

Answer 1

Vit A

Individuals who consume more than 10x RDA can develoip toxicity and suffer hepatic injury> cirrhosis.

Question 2

Vitamin overuse that results in nausea, vomiting, vertigo, blurred vision.

Answer 2

Acute toxicity

Question 3

Vitamin use that causes cleft palate and cardiac abnormalities.

Answer 3

Isotretinoin

Question 4

Night blindness, corneal degeneration, bitot spots.

Answer 4

Vit A def

Question 5

Cheiolosis, stomatitis, glossitis, dermatitis, corneal vascularization.

Answer 5

Vit B2 def

Question 6

Large doses of this vitamin can lead to false negative stool guaiac results, diarrhea and abdominal bloating and oxalate nephrolithiasis.

Answer 6

Vit C

Question 7

Large doses of this vitamin can cause higher mortality d/t hemorrhagic stroke in adults and necrotizing enterocolitis in infants.

Answer 7

Vit E

ENHANCES anticoagulant affects of warfarin.

Question 8

Excess orotic acid in the urine. Hypochromic megaloblastic anemia, neuro abnormalities, growth retardation.

Answer 8

Orotic aciduria d/t impaired pyrimidine synthesis

Question 9

How do you improve sxs in a pt with orotic aciduria?

Answer 9

Uridine supplementation improves sxs by inhibiting carbamoyl phosphate synthetase II and bypassing deficient enzyme

Question 10

Defect in HGPRT leads to
purine bases (hypoxanthine and Guanine) not recycled and an increase in Uric Acid.

Answer 10

Lesch Nyhan syndrome

Question 11

What must be increased to replace the lost bases (hypoxanthine and Guanine) in Lesch Nyhan?

Answer 11

De novo purine synthesis

phosphoribosyl pyrophosphate amidotransferase

Question 12

Hyperuricemia, gout, agression and self mutilation, retardation and dystonia.

Answer 12

Lesh Nyhan

Hyperuricemia
Gout
Pissed off (self mutilation)
Retardation
dysTonia

Question 13

What can be used to treat a pt with defects in the urea cycle?

Answer 13

Protein restriction (balance dietary protein intake w/ protein output)

Question 14

Decreased exercise tolerance, myoglobinuria (red urine), muscle pain w/ physical activity. Good prognosis.

Answer 14

Myophosphorylase def (McArdle’s syndrome)

Failed glycogenolysis

Question 15

Severe fasting hypoglycemia, increased glycogen in the liver, increased uric acid and hepatomegaly.

Answer 15

Von Gierke

Question 16

Cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance, early death.

Answer 16

Pompe (pompe trashes the PUMP…heart, liver, muscle)

Question 17

Milder form of Von Gierke (I) w/ normal blood lactate levels.

Answer 17

Cori disesase

Question 18

All three prokarytotic DNA Pol have proof reading activity and remove mismatched NUCLEOTIDES via…

Answer 18

3’ to 5’ exonuclease activity

Question 19

What DNA pol has 5’ to 3’ exonuclease activity which is used to replace RNA primers and damaged DNA sequences?

Answer 19

DNA Pol I

Question 20

What leads to the accumulation of pheynlalanine in in body fluids and the CNS?

Answer 20

Def in phenylalanine hydroxylase or its cofactor BH4

PKU!!!

(First step in catecholamine synthesis)

Question 21

Infant is normal at birth but gradually develops severe intellectual disability and seizures w/out treatment. Also has hypopigmentation of skin, hair and eyes.

Answer 21

PKU

Phenylalanine inhibits melanin synthesis.

Excess phenylalanine contributes to brain damage.

Question 22

Catalyst of decarboxylation of the alpha-ketoacid derivatives of all 3 branched chain AA: Leucine, isoleucine and valine.

Answer 22

Maple syrup urine disease

Branched chain ketoacid dehydrogenase

Question 23

Enzyme that catalyzes NE from Da?

Answer 23

Dopamine hydroxylase

Question 24

Def in homogentisate oxidase

Answer 24

Alkaptonuria> large amts of homogentisic acid> hyperpigementation and degenerative joint diseaes

Question 25

How do you prevent tumor lysis syndrome?

Answer 25

Hydration and use of hypouricemic agents like allopurinol or rasburicase

Hyperphosphatemia, hypocalcemia, hyperkalemia, hyperkalemia, hyperuricemia

Question 26

works in acetaminophen overdose by enhancing glutathione productionand conjugation of the toxic NAPQI metabolite.

Answer 26

N acetylcysteine

Question 27

Receptors and pathway for: CSF, prolactin, GH, cytokines

Answer 27

TK receptors and JakStat pathway

Question 28

How do you determine if someone is a carrier for sickle cell disease?

Answer 28

Hemoglobin electrophoresis

Hemoglobin S can be distinguished because it moves slowly compared to normal Hb d/t loss of negatively charged glutatmate

Question 29

Fever, leukocytosis, HYPOtn, tachycardia

Answer 29

Septic shck

Question 30

Why are elderly pts w/ dementia and hemiparesis at risk for aspiration pneumonia?

Answer 30

They may also have dysphagia

opacities in superior regions of LOWER lobes

Question 31

What is an essential cofactor in the synthesis of tyrosine , DOPA, 5HT and NO?

Answer 31

BH4

Question 32

What converts BH2 to BH4?

Answer 32

Dihydrobiopterin reductase

Question 33

What is seen in atypical PKU with tyrosine supplementaiton?

Answer 33

Only the catecholamine syntehsis rxns down stream of tyrosine are compromised

Question 34

What converts NE to Epi?

Answer 34

PNMT (requires SAM)

Question 35

Tyrosinase def leads to…

Answer 35

albinism (inability to produce melanin)

Question 36

Why is HCV genetically unstable?

Answer 36

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.