Biochem Exam 5: Aa Metabolism 3 (Aa Synthesis)

Front 1

in a fed state what are the excess amino acids turned into?

Back 1

glucose and acetyl Coa eventually leading to glycogen and triglycerides

Front 2

in a fasting state, what is the fate of the carbon core of the amino acid?

Back 2

CO2, pyruvate, TCA cycle intermediates, acteyl CoA, acetoacetate ( all to be used for energy)

Front 3

what are the four pathways in which the amino acid can generate energy?

Back 3

direct oxidation (producing NADH and FADH2 independent of the TCA cycle, oxidation through the TCA cycle, generation of glucose (then oxidizing it in the TCA cycle), and generation of ketone bodies (then oxidizing them in the TCA cycle).

Front 4

valine, isoleucine and leucine are good sources for this type of amino acid degradation pathway.

Back 4

direct oxidation

Front 5

what two organs use the direct oxidation pathway significantly?

Back 5

gut(fasting state) and muscle

Front 6

what pathway considers glutamine to be a good source of this energy?

Back 6

oxidation through the TCA cycle

Front 7

what three categories of organs/ cells use the oxidation through the TCA cycle most significantly?

Back 7

gut, immune cells, and kidneys

Front 8

what are two organs that produce glucose?

Back 8

liver and kidney cortex

Front 9

what are the 13 purely glucogenic amino acids?

Back 9

alanine, arginine, asparagine, aspartate, cysteine, glutamate, glutamine, glycine, histidine, methionine, proline, serine, valine

Front 10

what are the five glucogenic and ketogenic amino acids?

Back 10

isoleucine, phenylalanine, threonine, tryptophan, and tyrosine.

Front 11

what are the two solely ketogenic amino acids?

Back 11

leucine and lysine

Front 12

what are the six amino acids that produce energy through direct oxidation when dealing with only glucogenic amino acids?

Back 12

valine, threonine, isoleucine, methionine, proline and glycine

Front 13

what are the four amino acids that produce energy through direct oxidation when dealing with only ketogenic amino acids?

Back 13

threonine, lysine, isoleucine, and leucine

Front 14

which non-essential amino acid is essential for children?

Back 14

arginine

Front 15

where does the sulphur of cysteine come from?

Back 15

methionine

Front 16

what amino acid produces tyrosine? is the enzyme that produces tyrosine essential or non-essential?

Back 16

phenylalanine; essential

Front 17

what are the nine essential amino acids?

Back 17

histidine, methionine, valine, isoleucine, phenylalanine, threonine, tryptophan, leucine and lysine

Front 18

how many of the essential amino acids are glucogenic? ketogenic? both?

Back 18

3 glucogenic, 2 ketogenic, 4 both.

Front 19

into what category do the bulk of non-essential amino acids fit into: glucogenic, ketogenic, or both?

Back 19

glucogenic

Front 20

what are the four non-essential amino acids that are synthesized from glycolysis intermediates?

Back 20

serine, glycine, cysteine, and alanine

Front 21

what are the 2 non-essential amino acids synthesized from oxaloacetate?

Back 21

asparagine and aspartate

Front 22

what degradation pathway is tyrosine a part of?

Back 22

phenylalanine degradation pathway

Front 23

what are the four non-essential amino acids synthesized from alpha ketogluterate?

Back 23

glutamate, glutamine, proline and arginine

Front 24

what is the coenzyme for transamination and deamination of amino acids?

Back 24

pyridoxal-phosphate

Front 25

what is the coenzyme for metabolism of serine, glycine, and histidine for amino acids?

Back 25

tetrahydrofolate

Front 26

what is the coenzyme for methionine metabolism in amino acids?

Back 26

B12 vitamin

Front 27

what is the coenzyme for hydroxylation of phenylalanine, tyrosine and tryptophan in amino acids?

Back 27

tetrahydrobiopterin

Front 28

what is tetrahydrobiopterin synthesized from?

Back 28

GTP

Front 29

what is the coenzyme for the oxidative dearboxylation of branched-chain amino acids?

Back 29

thiamine-pyrophosphate and lipoate

Front 30

what is the major gluconeogenic amino acid?

Back 30

alanine

Front 31

via what intermediate of glycolysis is serine produced? what intermediate can serine produce?

Back 31

3-phosphoglycerate; 2 phosphoglycerate

Front 32

what produces glycine and cysteine?

Back 32

serine

Front 33

if cysteine lost its sulfhydryl group, what would it become?

Back 33

pyruvate

Front 34

T/F
The conversion from alanine to pyruvate is unilateral.

Back 34

FALSE,

it is bilateral via ALT.

Front 35

how is the synthesis of serine regulated?

Back 35

via negative feedback on 3 -phosphoglycerate dehydrogenase and phosphoserine phosphatase

Front 36

what are the four important metabolites that are produced via serine?

Back 36

glycine (neurorasmitter), D-serine (neurotransmitter), phosphatidylserine, sphingosine, and sphingolipids

Front 37

in relation to purine synthesis, serine is the ______ one-carbon donor to _____ in humans

Back 37

primary; FH4

Front 38

what are the symptoms of L-serine deficiency?

Back 38

low serine and glycine levels in blood and CSF, microcephaly (infantile form), psychomotor retardation (infantile), seizures, developmental delay (juvenile), behavioral abnormalities (juvenile)

Front 39

what are the treatments for L-serine deficiency?

Back 39

oral L-serine and glycine

Front 40

what are the important metabolites via the production of glycine?

Back 40

purines (nucleic acid synthesis), porphyrins (heme), creatine, and glutathione (antioxidant)

Front 41

what does threonine release to form glycine?

Back 41

acetyl CoA

Front 42

glycine can produce what step in the TCA cycle?

Back 42

alpha-ketoglutarate

Front 43

what type of neurotransmitter is glycine?

Back 43

inhibitory

Front 44

what are the 2 diseases of glycine degradation? what two directions of the pathway are hindered?

Back 44

nonketotic hyperglycinemia (glycine to carbon dioxide) and primary hyperoxaluria type 1 (PLP = pyruvate to alanine and back)

Front 45

T/F
other glycine degradation pathways can compensate for the nonketotic hyperglycinemia

Back 45

FALSE.

No other can compensate.

Front 46

what are the symptoms of nonketotic hyperglycinemia?

Back 46

elevated glycine levels in blood and CSF as well as neurological problems like mental retardation or developmental delay, hypotonia, and seizures.

Front 47

what is the treatment for nonketotic hyperglycinemia?

Back 47

sodium benzoate (converts glycine to hippuric acid for urinary secretion)

Front 48

what is the symptom of primary hyperoxaluria type 1?

Back 48

calcium oxalate kidney stones

Front 49

what is the treatment for primary hyperoxaluria type 1?

Back 49

high fluid intake, vitamin B6 (if responsive), drugs that decrease urinary Ca excretion, and avoid oxalate rich food.

Front 50

what are the important metabolites produced via oxaloacetate?

Back 50

purines, pyrimidines, and argininosccinate (urea cycle)

Front 51

what kind of drug is asparaginase used as?

Back 51

an antileukemic drug

Front 52

what amino acid is required for growth of fast dividing leukemic cells?

Back 52

asparagine

Front 53

how does oxaloacetate become asparagine?

Back 53

by transaminating to aspartate and then aspartate being converted to asparagine by asparagine synthetase, energy and glutamine

Front 54

the important metabolites via the production of glutamine are almost the same as which other compound? what is the only difference?

Back 54

oxaloacetate; gluatmine metabolities also include amino sugars. (GAGs)

Front 55

what are the important metabolites of glutamate?

Back 55

GABA (neurotransmitter), glutathione (antioxidant) and ornithine

Front 56

what are the five important metabolites of arginine?

Back 56

urea, ornithine, citrulline, nitric oxide, and creatine

Front 57

what is the important metabolite of histidine?

Back 57

histamine (inflammatory mediator)

Front 58

what are the 5 amino acids related to alpha-ketoglutarate?

Back 58

glutamate, glutamine, histidine, proline and arginine.

Front 59

what is histidinemia? what is the symptom?

Back 59

a deficiency in histidase. The symptom will be elevated levels of histidine in blood and urine

Front 60

what is used to monitor folic acid deficiency in relation to histidine metabolism?

Back 60

N-forminminoglutamate (FIGIu)

Front 61

what is FIGIu a precursor for?

Back 61

glutamate

Front 62

how is the metabolism of cysteine regulated?

Back 62

negative feedback on cystathionine synthase

Front 63

what are the 2 important metabolites produced via cysteine metabolism?

Back 63

glutathione and Coenzyme A

Front 64

what is the universal sulfate donor?

Back 64

PAPS

Front 65

what are the four amino acids related to succinyl CoA?

Back 65

methionine, threonine, isleucine, and valine

Front 66

what is the main pathway of threonine degradation?

Back 66

threonine to alpha-ketobutyrate losing an NH3 in the process

Front 67

what are the important metabolites of SAM?

Back 67

phosphatidylcholine, creatine, carnitine, melatonin, and epinephrine

Front 68

what are the 2 disorders of methionine/cysteine metabolism?

Back 68

hereditary homocystinuria and hereditary cystathioninuria

Front 69

what part of the pathway cannot function normal in hereditary homosystinuria? hereditary cystathionuria?

Back 69

homo: cystathione synthase and cysta: cystathionase

Front 70

which enzyme is affected in the methionine/cysteine metabolism disorders?

Back 70

PLP

Front 71

defiency in what vitamin and what enzyme can lead to the methionine/cysteine metabolism disorders?

Back 71

PLP and 12

Front 72

which disorder has a low blood levels of B12? (methionine, homocysteine, or cystathionine)

Back 72

methionine

Front 73

which disorder has a low blood level of cystathione synthase? (methionine, homocysteine, or cystathionine)

Back 73

cystathionine

Front 74

which disorder has elevated blood levels of cystathionase, cystathione synthase and B12? (methionine, homocysteine or cystathionine)

Back 74

homocysteine

Front 75

what are the symptoms of cystathioninuria?

Back 75

elevated cystathionine levels in blood and sometimes mental retardation

Front 76

what are the treatments for cystathioninuria?

Back 76

dietary restriction of met, and supplementation of cys, vitamin B6 (PLP) supplementation (if responsive)

Front 77

what are the symptoms for homocystinuria?

Back 77

elevated homocystine levels in blood and urine, mental retardation or developmental delay, ectopia lentis, skeletal abnormalities (marfan-like), and increased clot formation

Front 78

what are the treatments for homocystinuria?

Back 78

dietary restriction of Met, and supplementation of cys, vitamin B6 (PLP), B12, and folic acid supplementation (if responsive) and betaine supplementation (methylation of homocysteine).

Front 79

in what country is homocystinuria most present? (norway, germany or ireland)

Back 79

norway

Front 80

what percentage of Propionyl CoA is produced from amino acids in the human body?

Back 80

~50%

side note: ~30% from odd-chain length FA and ~20% derive from intestinal bacteria

Front 81

what 2 things can cause propionic acidemia?

Back 81

biotin deficiency and propionyl-CoA carboxylase deficiency

Front 82

what 2 things can cause methylmalonic acidemia?

Back 82

B12 deficiency and methylmalonyl-CoA mutase deficiency

Front 83

what are the symptoms of propionic and methylmalonic acidemia?

Back 83

ketoacidosis (increased levels in blood and urine) and secondary hyperammonemia (encephalopathy, lethargy, vomiting, hypotonia)

Front 84

propionyl and methylmalonyl-CoA are competitive inhibitors of what enzyme?

Back 84

N-acetylglutamate synthetase

Front 85

what are the five treatments for propionic and methylmalonic acidemia?

Back 85

intravenous bicarb (balance blood pH), oral neomycin treatment (to reduce propionate production via gut's flora), L-carnitine treatment (to form propionylcarnitine and release CoA), Biotin or B12 supplementation (if responsive), and low protein, high carb diet restricted in the involved amino acids.

Front 86

how many of the amino acids involved in propionic/ methylmalonic acidemia are essential?

Back 86

all of them! 4.

Front 87

what are the cofactors of alpha-keto acid dehydrogenase?

Back 87

thiamine-pyrophosphate, lipoate, and FAD

Front 88

which of the branched-chain amino acids produces the most energy from direct oxidation?

Back 88

valine 9 ATP

Front 89

how many branched-chain amino acids are there? what are they?

Back 89

3: valine, isoleucine, and leucine

Front 90

what type of amino acids are defective in maple syrup urine disease?

Back 90

branched-chain

Front 91

what enzyme is defective in maple syrup urine disease?

Back 91

alpha keto acid dehydrogenase

Front 92

what are the symptoms of maple syrup urine disease?

Back 92

elevated branched-chain amino acids (esp leucine) in blood and branched-chain ketoacids in blood and especially urine. encephalopathy (lethargy, poor feeding, apnea, opisthotonus, coma)

Front 93

how is maple syrup urine disease managed?

Back 93

branched-chain amino acid restricted high calorie diet. BCAA free formulas supplemented with limited amounts of valine and isoleucine.

Front 94

which amino acid is the most restricted in the management of maple syrup urine disease?

Back 94

leucine

Front 95

what are the first signs of maple syrup urine disease?

Back 95

maple syrup odor of urine (5-7 days after birth) and of earwax (12-24 hr after birth)

Front 96

which amino acids are transported through the blood-brain barrier by the same transporter?

Back 96

BCAAs, phe, tyr, trp, his and met

Front 97

what four amino acids are important precursors for neurotransmitters/ hormones in the brain?

Back 97

tyr, trp, his and met

Front 98

what what type of cell is the amino group of BCAAs used for glutamate synthesis?

Back 98

astroglial cells

Front 99

where is glutamate converted to glutamine? where is it converted back to glutamate?

Back 99

astroglial cells; neurons

Front 100

what other neurotransmitter does glutamine produce?

Back 100

GABA

Front 101

what are the neurological problem of Maple syrup urine disease II?

Back 101

leucine intoxication

Front 102

what happens during leucine intoxication?

Back 102

leucine overloads the blood-brain barrier transporter blocking the transport of Phe, Tyr, Trp, His and Met. This leads to a reduced production of neurotransmitters/hormones. alphaKIC reverses the transamination reaction (which was BCAAs to BCKA and alpha-ketoglutarate to glutamate) and decreases glutamate and gltamine levels in astroglial cells. Low glutamate concentration = stops ammonia removal by glutamine synthase. Reduced glutamine levels cause decreased glutamate and GABA production.

Front 103

what are the main culprits of leucine intoxication?

Back 103

leucine and its ketoacid- alpha ketoiscaproic acid

Front 104

what is the only non-essential ketogenic amino acid?

Back 104

tyrosine

Front 105

what are the three catecholamines who have L-Dopa as their precursor?

Back 105

dopamine, norepinephrine, and epinephrine

Front 106

how is tyrosine converted to dopaquinone? L-dopa?

Back 106

via tyrosinase; via tyrosine hydroxylase

Front 107

what is dopaquinone the precursor for?

Back 107

melanin

Front 108

what are the 3 disorders of phenylalanine/tyrosine metabolism I? what is the enzyme that is deficient in each disorder?

Back 108

hyperphenylalaninemias (phenylalanine hydroxylase), tyrosinemia II (tyrosine aminotransferase) and oculocutaneous albinism type 1 (tyrosinase)

Front 109

what is an important cofactor in Phe hydroxylation?

Back 109

tetrahydrobiopterin

Front 110

what is another cause of hyperphenylalaninemia besides a deficiency in phenylalanine hydroxylase?

Back 110

tetrahydrobiopterin deficiency

Front 111

which cause of hyperphenylalaninemia tends to be more severe? why?

Back 111

tetrahydrobiopterin deficiency caused hyperphenylalaninemia because of the inability to synthesize important neurotransmitters/hormones

Front 112

what are the symptoms of hyperphenylalaninemias (phenylketonuria)?

Back 112

elevated phenylalanine levels in blood, phenyl ketones and other phenylalanine metabolites in urine (musty odor), neurological problems (microcephaly, mental retardation, tremors, seizures), decreased serotonin and catecholamine levels in brain and decreased myelin formation around neurons. Can also cause decreased hair and skin pigmentation

Front 113

what are the treatments for PKU?

Back 113

Phe restricted protein diet and Phe-free medial formulas. Avoid aspartame (artificial sweetener), and BH4 (tetrahydrobiopterin) supplementation if pt responds.

Front 114

what are the symptoms of tyrosinemia II?

Back 114

elevated tyrosine levels in blood, elevated tyrosine metabolites in urine, painful corneal and skin lesions (tyrosine crystals), neurological problems (developmental delay)

Front 115

what are the symptoms of oculocutaneous albinism type 1?

Back 115

greatly reduced or complete lack of melanin production, white skin, white hair, skin sensitivity to sunlight, and translucent iris.

Front 116

what are the treatments for oculocutaneous albinism type 1?

Back 116

skin and eye care

Front 117

what are the 2 disorders of phenylalanine/tyrosine metabolism II? what enzymes are deficient?

Back 117

alkaptonuria (homogentisate oxidase) and tyrosinemia (fumarylacetoacetate hydrolase)

Front 118

what step in the pathway from phenylalanine to fumarylacetoacetate is inhibited by a drug called nitisinone?

Back 118

the degradation of hydroxyphenylpyruvate and subsequent formation of fumarylacetoacetate

Front 119

what are the symptoms of Tyrosinemia I?

Back 119

hepatic failure, kidney failure, rickets, elevated plasma phenylalnine, tyrosine, methionine , and sigma aminolevulinic levels. They will also have elevated tyrosine metabolites in urine.

Front 120

how can tyrosinemia I cause hepatic failure, kidney failure and rickets?

Back 120

hepatic: toxic levels of fumarylacetoacetate in hepatocytes. Kidney: high levels of succinylacetone in blood and urine. Rickets: high excretion of phosphate in urine (low bone density)

Front 121

what do elevated plpasma sigma aminolevulinic acid levels inhibit? what does it cause?

Back 121

heme synthesis; change in mental status, abdominal pain, and respiratory failure.

Front 122

what are the treatments for tyrosinemia I?

Back 122

Nitisinone, Phe and Tyr restricted protein diet, dietary calcium and vitamin D supplementation (against rickets), and liver transplantation

Front 123

what are the symptoms of alkaptonuria?

Back 123

elevated homogentisic acid levels in urine (turns black when left standing), ochronosis (bluish-black pigmentation of connective tissues), arthritis and often associated with kidney stones

Front 124

why is ochronosis caused by alkaptonuria? what is the first sign?

Back 124

accumulation of homogentistic acid in issues; first sign is the brown pigmentation of the eyes.

Front 125

what are the treatments for alkaptonuria?

Back 125

joint pain management or surgery.

Front 126

what is serotonin responsible for?

Back 126

gut movement and appetite

Front 127

what is melatonin responsible for?

Back 127

sleep-wake cycle (pineal gland)

Front 128

what are the 2 general reasons behind what causes the diseases of amino acid metabolism?

Back 128

mutated enzymes (autosomal recessive) or insufficient co-factors

Front 129

when will a human under normal physiological conditions have a positive nitrogen balance?

Back 129

during growth (from infancy to adolescence, pregnancy and lactation) and during recovery from illness or malnutrition

Front 130

when will a human under normal physiological conditions have a negative nitrogen balance?

Back 130

during illness and malnutrition

Front 131

what are food sources that contain all 9 essential amino acids?

Back 131

mostly animal products: egg, milk, cheese, meat, poultry, fish. Plant source: soy products

Front 132

what are the food sources that lack some of the essential amino acids?

Back 132

mostly plant products: vegetables, grains, legumes, nuts, and seeds. as well as gelatin.

Front 133

what 3 amino acids does gelatin lack?

Back 133

Trp, Val and Ile

Front 134

what are symptoms of pellagra?

Back 134

dermatitis, diarrhea, dementia and death

Front 135

what causes kwashiorkor? what age group does it affect?

Back 135

breast-fed entirely then rapidly weaned. switched from breast milk to diet with little protein. age: 1.5-2 YO

Front 136

what is marasmus?

Back 136

chronic general energy malnutrition- starvation

Front 137

what are the symptoms of marasmus?

Back 137

emaciated appearance, no body fat- bones, ribs, vertebral column are clearly seen.