Clinical Coorelates For Biochemistry Exam 4

Front 1

Which of the following is FALSE concerning obesity?
a) 30% greater than IBW – increasing epidemic
b) BMI 30 or greater
c) Metabolic syndrome
d) Causes include endocrine disorders, genetic desposition, and/or increased consumption of high fat foods

Back 1

a) (should be 20%)

Front 2

Obesity is called a metabolic syndrome because it involves many of these factors EXCEPT
a) central obesity
b) HBP
c) high TAGs
d) high levels of HLDs
e) insulin resistance

Back 2

d) (should be LOW levels of HDLs)

Front 3

There is a correlation between type II diabetes and obesity. All of the following correlations are true EXCEPT:
a) increased FFAs in blood causes increased body glucose
b) there is utilization of muscle glycogen synthesis
c) FFA block metabolism of glucose

Back 3

a) (should say increased FFA's in blood cause DECREASED blood glucose)

Front 4

T/F?
In the Fasted state, some FFAs released by adipose tissue are used and others are re-esterified to TAGs.

Back 4

true

Front 5

T/F?
A primary deficiency of carnitine palmitoyltransferase means you have low carnitine transporters, and a secondary deficiency means you have alpha-oxidation deficiencies.

Back 5

false
(2ndary means you have beta-oxidation defs.)

Front 6

Regarding the genetic deficiencies of Acyl-CoA dehydrogenase, all of the following are true EXCEPT
a) affect 1st rxn of beta-oxidation
b) fasting for more than 12 hours – vomiting, lethargy, coma, hypoglycemia, aciduria
c) glucose utilization is decreased
d) treatment includes high carb and carnitine diet to lessen symptoms

Back 6

c) (Glucose utilization is INCREASED)

Front 7

What is the disease called that occurs when a person lacks alpha-hydroxylase in mitochondria, accumulates branched FAs, and can lead to neurological problems?
a) Gaucher
b) Krabbe
c) Sandhoff
d) Refsum

Back 7

d) Refsum

Front 8

Which of the following occurs if you're on the Atkins diet?
a) ketosis develops when glucose oxidation is accelerated and fat catabolism is suppressed
b)adipose tissue is converted by the liver to ketone bodies
c) alpha-ketoglutarate and pyruvate are the main source of energy to the brain
d) muscles use fatty acids first then switches to ketone bodies

Back 8

b) only one that's TRUE

a) false b/c gluc. ox. is suppressed while fat cat. is accelerated
c) false b/c beta-hydroxybutyrate and acetoacetate are the main sources of E to the brain
d) false b/c muscles use ketone bodies 1st & then switch to fa's

Front 9

Respiratory Distress Syndrome is the major cause of neonatal morbidity and mortality. Which of the following is FALSE concerning this syndrome?
a) 15-20% of neonatal deaths in Western countries
b) affects only premature babies due to immaturity of their lungs from deficiency of surfactant
c) can be assessed from lecithin/sphingomyelin ratio
d) can only use saturated palmitoyl phosphatidylcholine (SPC) to determine risk

Back 9

d) FALSE b/c in addition to using SPC, you can also use phosphatidylglycerol and phosphatidylinositol to determine risk

Front 10

Regarding the treatment of Hypercholesterolemia, all of the following are true EXCEPT
a) dietary restriction of cholesterol to less than 300mg/day
b) total fat intake less than 30% of total calories and 2/3 of fat should be mono- or polyunsaturated
c) cholestyramine and colestipol are bile salt binding drugs that promote excretion of bile salts increasing hepatic bile salt synthesis and LDL uptake in liver
d) Loveastatin inhibits HMG-CoA reductase, stimulating uptake of HDL

Back 10

d) (Lovastatin inhibits HMG-CoA reductase, stimulating uptake of LDL, not HDL!)

Front 11

All of the following are involved with Atherosclerosis EXCEPT
a) risk is related to plasma HDL cholesterol and inversely related to LDL cholesterol levels
b) arterial wall accumulates cholesteryl esters in cells from monocyte-macrophage line, smooth muscle cell proliferation and fibrosis
c) monocytes migrate to subendothelium of artery & differentiate into macrophages which accumulate cholesteryl esters derived from plasma LDL
d) distortion of subendothelium leads to platelet aggregation and release of platelet derived growth factor (PDGF)

Back 11

a) (should say: Risk is related to plasma LDL cholesterol (“bad”) and inversely related to HDL cholesterol level (”good”)

Front 12

What is an inherited disease of lipid catabolism in which glucocerebroside accumulates in macrophages of reticuloendothelial system and causes bone pains?

What's the method of diagnosis?

Back 12

Gaucher's

Diagnosis – assaying leukocytes or fibroblasts for ability to hydrolyze beta-glycosidic bond of artificial substrates or of glucocerebroside

Front 13

Carbamoyl phosphate synthetase and N-acetylglutamate synthetase deficiencies involve
a) hyperammonemia in infants with 0-50% of normal level of carbamoyl phosphate synthetase activity in their liver
b) given arginine in hopes that it would activate N-acetylglutamate synthetase and stimulate CPS
c) deficiency leads to mental retardation
d) successfully treated with carbamoyl glutamate which activates CPS
e) a & b only
f) all of the above are true

Back 13

f) all the above

Front 14

What is the most common deficiency of urea cycle that can lead to mental retardation and/or death, and is caused by excess ammonia before adequate therapy?
a) arginase deficiency
b) argininosuccinate synthetase
c) lyase deficiency
d) ornithine transcarbamoylase deficiency

Back 14

d) ornithine transcarbamoylase deficiency

more info:
--Males more affected (on X chromosome)
--Increased ammonia, amino acids, orotic acid

Front 15

Which urea cycle enzyme deficiency involves the inability to condense citrulline with aspartate, resulting in accumulation of citrulline in blood and excretion in urine?
a) arginase deficiency
b) argininosuccinate synthetase
c) lyase deficiency
d) ornithine transcarbamoylase deficiency
e) b & c
f) none of the above

Back 15

e) b & c

more info:
Therapy – supplementation with arginine for protein synthesis and formation of creatine

Front 16

Arginase deficiency is described by all of the following except:
a) Rare but causes abnormalities in development and function of CNS
b) Males more affected
c) Arginine accumulates and then excreted
d) Diet including essential amino acids but excluding arginine has been effective

Back 16

b) (doesnt mention whether males are more affected or not)

Front 17

What urea cycle enzyme deficiency is AKA hyperornithienemia, hyperammonemia, homocitrullinemia syndrome (HHH syndrome), had symptoms that include mental retardation, cerebellar ataxia, or episodic coma?
a) Arginase Deficiency
b) Argininosuccinate Synthetase and Lyase Deficiency
c) Mitochondrial Ornithine Transport Deficiency
d)Ornithine Transcarbamoylase Deficiency

Back 17

c) Mitochondrial Ornithine Transport Deficiency

other info: Disease caused by mutations in gene (nonsense, missense, frameshift)

Front 18

___________ in preterm infants occurs before burst of cortisol production, and addition of cortisol in feeding premature babies may improve survival and growth.

Back 18

Hypoargininemia

other info: Cortisol is inducer of arginine-sythetic enzymes

Front 19

Diseases of proline metabolism are described by all of the following except:
a) Deficiency in pyrroline-5-carboxylate dehydrogenase results in high concentrations of proline, glycine, and ornithine in serum
b) Can be associated with seizures
c) Deficiency in pyrroline-5-carboxylate synthetase has serious symptoms
d) Hyperprolinemia, hypoornithinemia, hyperammonemia lead to cataracts, mental retardation, joint lability, skin hyperelasticity
e) Decreased levels of pyrroline-5-carboxylate inactivates pyridoxal phosphate (neurological complications)

Back 19

e) (should say ELEVATED levels of pyrroline-5-carboxylate inactivates pyridoxal phosphate (neurological complications)

Front 20

Selenoprotein P (SeP) has all or involves all of the following except:
a) Elevated levels of pyrroline-5-carboxylate inactivates pyridoxal phosphate
b) Peroxidase
c) 10 selenoprotein residues
d) Provide selenium to proliferating cells and also as a glutathione dependent reduction of phosphatidylcholine hydroperoxide

Back 20

a) Elevated levels of pyrroline-5-carboxylate inactivates pyridoxal phosphate (this is involved in diseases of Proline Metabolism)

Front 21

T/F? Selenoproteins were 1st known as glutathione peroxidases.

Back 21

true

Front 22

Selenoproteins involve:
a) Shift in usage of UGA codon from a stop codon to a signal or selenocysteine incorporation mediated by 5 components
b) Statin drugs used as therapy for hypercholesterolemia inhibit cholesterol synthetic pathway and reduce isopentyl groups
c) Myopathy and side-effects of statins resemble symptoms of selenium deficiency
d) mechanism of tissue damage by statins may be inhibition of selenoprotein synthesis
e) all of the above
f) none of the above

Back 22

e) all of the above

Front 23

Nonketotic Hyperglycinemia involves all of the following except:
a) Characterized by severe mental deficiency & many do not survive infancy
b) distinguished from ketoacidosis in abnormalities of branched-chain amino acid metabolism in which glycine level in blood is elevated
c) deficiency of glycine cleavage complex seen in homogenates of liver; isotropic studies confirmed enzyme is not active
d) complex consists of 4 protein subunits (inherited abnormalities found in 3 of them)
d) Severity suggests that glycine cleavage is important in catabolism of glycine
e) Glycine – major accelerating neurotransmitter

Back 23

e) SHOULD say:
Glycine – major INHIBITORY neurotransmitter

Front 24

All of following are true about folic acid deficiency EXCEPT:
a) 100-200mcg of folic acid required daily (obtained from diet)
b) in a preformed experiment when depriving folic acid, by altering RBCs and formiminoglutamate excretion appeared after 13 weeks
c) folate deficiency seen in infants is due to megaloblastic anemia
d) in a preformed experiment when depriving folic acid, symptoms of deficiency appeared right away

Back 24

d) FALSE: symptoms did not appear for 7 weeks

Front 25

All of following involves Phenylketonuria EXCEPT:
a) Excretion of phenylpyruvic acid (a phenylketone) in urine
b) Phenylacetate is what gives a mousy odor
c) Associated with arthritis
d) Mental retardation can be prevented by diet low in phenylalanine
d) Autosomal recessive deficiency of phenylalaine hydroxylase
e) Light color of skin and eyes is due to under pigmentation because of tyrosine deficiency

Back 25

c) NOT associated with arthritis (Alcaptonuria is)

Front 26

Phenylketonuria involves:
a) Treatment w/ a synthetic diet low in phenylalanine but including tyrosine for about 4-5 years followed by dietary protein restriction for several more years or life
b) Deficiency in BH4 can be caused by mutation of enzymes that convert GTP to BH4
c) DOPA responsive dystonia and SR deficiency cannot be detected by screening for PKU
d) only a & b
e) all of the above

Back 26

e) all the above