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Biochemistry- First Aid > Biochemistry First Aid- Metabolism Part 2 (107-118) > Flashcards

Biochemistry First Aid- Metabolism Part 2 (107-118) Flashcards

1
Q

galactokinase deficiency is fairly mild, but what symptoms may occur?

A

may initially present as failure to track objects or to show social smile; galactose in blood and urine, infantile cataracts

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2
Q

classic galactosemia results from what enzyme deficiency

A

galactose-1-phosphate uridyltransferase

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3
Q

what are the symptoms of galactosemia

A

failure to thrive, infantile cataracts (galacticol accumulates in the lens of the eye), jaundice, hepatomegaly, intellectual disability

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4
Q

what’s the treatment for classic galactosemia

A

exclude galactose and lactose (galactose + glucose) from diet

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5
Q

what microbiologic complication can arise in patients with classic galactosemia

A

E. coli neonatal sepsis

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6
Q

_______ is converted to sorbitol via ___________

A

glucose is converted to sorbitol via aldose reductase

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7
Q

sorbitol is converted to ___________ via __________

A

sorbitol is converted to fructose via sorbitol dehydrogenase

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8
Q

what tissues have insufficient sorbitol dehydrogenase leading to risk of disease in hyperglycemic states

A

schwann cells (peripheral neuropathy), retina, kidney, lens

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9
Q

in addition to converting glucose to sorbitol, aldose reductase also converts galactose to ___________

A

galacticol

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10
Q

lactose intolerance is caused by deficiency of what enzyme

A

lactase

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11
Q

what are the three kinds of lactase deficiency

A

primary (loss of lactase persistence allele as an adult), secondary (loss of brush border due to gastroenteritis), congenital (defective gene from birth)

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12
Q

what would be the stool and breath test findings in someone with lactase deficiency

A

stool has low pH, breath test shows high hydrogen content with lactose tolerance test

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13
Q

what are the symptoms of lactase deficiency and how is it treated

A

Sx: flatulence, bloating, cramping, osmotic diarrhea

Tx: avoid dairy, lactase pills, lactose-free milk

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14
Q

what enantiomer of amino acids are found in proteins

A

L-form

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15
Q

name the essential amino acids and separate them by glucogenic, glucogenic/ketogenic, and ketogenic

A

glucogenic: methionine, valine, histidine
both: isoleucine, phenylalanine, threonine, tryptophan
ketogenic: leucine and lysine

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16
Q

name the acidic amino acids

A

aspartic acid and glutamic acid

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17
Q

name the basic amino acids and specify which is most basic

A

arginine, lysine, histidine

arginine is most basic

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18
Q

which basic amino acid has no charge at body pH

A

histidine

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19
Q

which amino acids are required during periods of growth

A

arginine and histidine

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20
Q

which amino acids are predominant in histones

A

arginine and lysine

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21
Q

which enzyme converts NH3 and CO2 to carbamoyl phosphate in the urea cycle

A

carbamoyl phosphate synthetase I

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22
Q

name the intermediates of the urea cycle (starting with aspartate entry into the cycle)

A

aspartate –> argininosuccinate –> arginine –> ornithine + carbamoyl phosphate –> citrulline

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23
Q

how is ammonia from amino acids sent off from the muscle

A

step 1: ammonia from amino acids gets transferred to alpha-ketoglutarate to make glutamate (generating alpha keto acids in the process);
step2: glutamate transfers ammonia to pyruvate to make alanine (regenerating alpha-ketoglutarate in the process)

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24
Q

explain the alanine cycle

A

function: the alanine cycle transports ammonia between muscle and liver;
1. alanine in muscle carries NH3 to liver,
2. alanine gets converted to pyruvate, which becomes glucose
3. glucose moves back to muscle
4. glucose gets converted to pyruvate
5. in the muscle pyruvate is aminated to form alanine

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25
Q

explain the Cori cycle

A

function: Cori cycle transports lactate to liver where it can be converted to glucose and sent back to muscle
1. in muscle glucose becomes pyruvate, then lactate
2. lactate moves from muscle to liver
3. in liver lactate becomes pyruvate, then glucose
4. glucose moves from liver back to muscle

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26
Q

how is ammonia disposed of in the liver

A

aminated alanine transfers NH3 to alpha-ketoglutarate to form glutamate;
glutamate is converted to urea to be excreted

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27
Q

name the two general etiologies of hyperammonemia

A
  1. acquired (liver disease)

2. hereditary (urea cycle enzyme deficiencies)

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28
Q

how does hyperammonemia affect metabolism

A

too much NH4+ depletes alpha-ketoglutarate, leading to inhibition of the TCA cycle

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29
Q

what are the symptoms of ammonia intoxication

A

tremor (asterixis), somnolence, slurred speech, vomiting, cerebral edema, blurring of vision

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30
Q

what is the treatment for hyperammonemia

A
  1. limit protein in diet;
  2. benzoate or phenylbutyrate (bind amino acid and lead to excretion) can be given to lower ammonia levels
  3. lactulose to acidify the GI tract and trap NH4+ for excretion
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31
Q

what is the role of N-acetylglutamate

A

N-acetylglutamate is the cofactor required by carbamoyl phosphate synthetase I

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32
Q

what is caused by N-acetylglutamate deficiency

A

hyperammonemia

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33
Q

how do you differentiate between N-acetylglutamate deficiency and carbamoyl phosphate synthetase I deficiency

A

check urea cycle enzymes; both deficiencies will cause increased ornithine, but urea cycle enzymes will be normal in N-acetylglutamate deficiency (since only the cofactor is deficient)

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34
Q

what is the most common urea cycle disorder and what’s its inheritance pattern

A

ornithine transcarbamylase deficiency;

X-linked recessive

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35
Q

levels of what molecule are markedly elevated in OTC deficiency (besides ornithine)

A

orotic acid (carbamoyl phosphate is converted to orotic acid in pyrimidine synthesis pathway)

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36
Q

describe the findings of OTC deficiency and explain how you would differentiate from orotic aciduria

A

OTC deficiency: increased orotic acid in blood and urine, decreased BUN, symptoms of hyperammonemia

like orotic aciduria, OTC deficiency shows increased orotic acid in blood and urine
unlike orotic aciduria, OTC deficiency shows hyperammonemia and DOES NOT involve megaloblastic anemia

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37
Q

which amino acid gives rise to tyrosine and list the derivatives of tyrosine

A

phenylalanine gives rise to tyrosine which can become thyroxine or dopa; dopa can become melanin or dopamine; dopamine becomes NE, which gets converted by SAM to Epi

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38
Q

which amino acid becomes either niacin or serotonin

A

tryptophan

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39
Q

what is the precursor for melatonin

A

serotonin

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40
Q

histamine is converted to ________ by vitamin ____

A

histamine is converted to histidine by vitamin B6

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41
Q

glycine is converted to _______ by vitamin B6

A

porphyrin

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42
Q

phorphyrin is converted to _______

A

heme

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43
Q

glutamate becomes _______ and ________

A

GABA and glutathione

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44
Q

what three molecules does arginine get converted to

A

creatinine, nitric oxide and urea

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45
Q

what is the enzyme deficiency in phenylketonuria (PKU) and what does this enzyme do

A

decreased phenylalanine hydroxylase, which is responsible for converting phenylalanine to tyrosine
(or decreased tetrahydrobiopterin cofactor in the case of malignant PKU)

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46
Q

what are the findings associated with PKU

A

intellectual disability, growth retardation, seizures, fair skin, eczema, musty body odor, excess phenylketones in urine

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47
Q

how is PKU treated

A

decreased phenylalanine and increased tyrosine in diet

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48
Q

describe maternal PKU

how is it caused, what happens to baby

A

if a pregnant woman with PKU fails to maintain a proper diet high phenylketones in the intrauterine environment can cause the baby to have intellectual disability, growth retardation, microcephaly and congenital heart defects

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49
Q

what is the inheritance pattern of PKU

A

autosomal recessive

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50
Q

when are babies screened for PKU and why

A

2-3 days after birth (not immediately because you must wait for maternal enzymes to disappear)

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51
Q

name three phenylketones

A

phenylacetate, phenylpyruvate, phenyllactate

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52
Q

why do patients with PKU have a musty body odor

A

phenylketones are aromatic compounds

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53
Q

why must patients with PKU avoid splenda

A

aspartame contains phenylalanine

54
Q

what enzyme deficiency causes alkaptonuria and what does enzyme do

A

homogentisate oxidase catalyzes conversion of homogentisate (derived from tyrosine) to maleylacetoacetic acid, which goes on to become fumarate

55
Q

is alkaptonuria a severe or benign disease

A

benign

56
Q

what are the findings of alkaptonuria

A

dark connective tissue, brown pigmented sclerae, urine turns black on prolonged exposure to air, debilitating arthralgias (because homogentisic acid is toxic to cartilage)

57
Q

what are the three different causes of homocystinuria and how are they each treated

A
  1. cystathionine synthase deficiency (Tx= low methionine, high cysteine, high B12 and high folate in diet)
  2. low affinity of cystathionine synthase for pyridoxal phosphate (Tx= high B6 and cysteine in diet)
  3. homocysteine methyltransferase deficiency (Tx=high methionine in diet)
58
Q

what are the findings of homocystinuria

A 
high homocysteine in urine,
intellectual disability,
osteoporosis, tall stature, kyphosis, 
lens subluxation (down and inward)
thrombosis and atherosclerosis (CVA and MI)
59
Q

what causes cystinuria

A

hereditary defect of renal PCT and intestinal amino acid transporter for Cysteine, Ornithine, Lysine and Arginine (“COLA”)

60
Q

what test is used to diagnose cystinuria

A

urinary cyanide-nitroprusside test

61
Q

what complication can result for cystinuria

A

precipitation of hexagonal cystine stones

62
Q

what is the difference between cystine and cysteine

A

cystine consists of 2 cysteines connected by a disulfide bond

63
Q

what is the enzyme deficiency that causes maple syrup urine disease and what does it do

A

low alpha-ketoacid dehydrogenase, which normally degrades branched amino acids (isoleucine, leucine and valine), riding the blood of alpha-ketoacids

64
Q

what are the symptoms of maple syrup urine disease

A

severe CNS defects, intellectual disability, death, urine that smells like maple syrup

65
Q

how is maple syrup urine disease treated

A

low valine, isoleucine and leucine in diet

thiamine supplementation

66
Q

what vitamin catalyzes breakdown of alpha-ketoacids by alpha-ketoacid dehydrogenase

A

B1

67
Q

what kinds of bonds do branches vs. linkages have in glycogen

A

branches have alpha-1,6 bonds

linkages have alpha-1,4 bonds

68
Q

describe the pathway of glycogen to G-6-P in muscle during exercise (include enzymes)

A

glycogen –> G-1-P (catalyzed by glycogen phosphorylase) –> G-6-P

69
Q

explain how glycogen phosphorylase generates limit dextrin

A

glycogen phosphorylase degrades glycogen until four G-1-P residues remain on the branch (this remaining strip of four residues is called limit dextrin)

70
Q

what enzyme moves three G-1-P molecules off the branch (limit dextrin) onto the linkage

A

4-alpha-D-glucanotransferase (aka debranching enzyme)

71
Q

which enzyme cleaves the last G-1-P off of the branched glycogen chain

A

alpha-1,6-glucosidase (a debranching enzyme)

72
Q

name the four most common glycogen storage diseases

A

Von Gierke disease, Pompe disease, Cori disease, McArdle disease
(“Very Poor Carbohydrate Metabolism”)

73
Q

what is the enzyme deficiency and what are the findings of Von Gierke disease

A

glucose-6-phosphatase deficiency (G-6-P to glucose)

severe fasting hypoglycemia, very high glycogen in liver, high blood lactate, hepatomegaly

74
Q

how is Von Gierke disease treated

A

frequent oral glucose/cornstarch; avoid fructose and galactose

75
Q

what is the deficient enzyme of Pompe disease and what are the findings

A

lysosomal alpha-1,4-glucosidase (acid maltase);

cardiomyopathy and systemic disease leading to early death

76
Q

what is the enzyme deficiency of Cori disease and what are the findings

A

alpha-1,6-glucosidase deficiency;

milder form of Von Gierke disease with normal blood lactate, gluconeogenesis is intact

77
Q

what is the enzyme deficiency in McArdle disease and what are the findings

A

skeletal muscle glycogen phosphorylase is deficient;
findings: increased glycogen in muscle that can’t be broken down leading to painful muscle cramps, myoglobinuria (red urine) with exercise and arrhythmia from electrolyte abnormalities

78
Q

name 6 lysosomal storage diseases that are sphingolipidoses

A

Fabry disease, Gaucher disease, Niemann-Pick disease, Tay-Sachs disease, Krabbe disease, Metachromatic leukodystrophy

79
Q

name the 2 lysosomal storage diseases that are mucopolysaccharidoses

A

Hurler syndrome and Hunter syndrome

80
Q

which two lysosomal storage diseases are X-linked recessive as opposed to autosomal recessive

A 
Fabry disease (a sphingolipidosis)
and Hunter syndrome (a mucopolysaccharidosis)
81
Q

what is the enzyme deficiency, accumulated substrate and clinical findings of Fabry disease

A

alpha-galactosidase A;
ceramide trihexose accumulates
findings: peripheral neuropathy, angiokeratomas (red/blue and raised skin), cardiovascular/renal disease

82
Q

what is the enzyme deficiency, accumulated substrate and clinical findings of Gaucher disease

A

glucocerebrosidase (beta-glucosidase) deficiency;
glucocerebrosidase accumulates;
findings: hepatosplenomegaly, pancytopenia, aseptic necrosis of femur, bone crises, Gaucher cells (lipid-laden macrophages resembling crumpled tissue paper)

83
Q

what is the most common lysosomal storage disease

A

Gaucher disease

84
Q

how is Gaucher disease treated

A

recombinant glucocerebrosidase

85
Q

what is the enzyme deficiency, accumulated substrate and clinical findings of Niemann-Pick disease

A

sphingomyelinase deficiency;
sphingomyelin accumulates;
findings: progressive neurodegeneration, hepatosplenomegaly, “cherry red” spot on macula, foam cells (lipid-laden macrophages)

86
Q

what is the enzyme deficiency, accumulated substrate and clinical findings of Tay-Sachs disease

A

hexosaminidase A deficiency;
GM2 ganglioside accumulates;
findings: progressive neurodegeneration, developmental delay, lysosomes with onion skin, “cherry red” spot on macula (like Niemann-Pick), no hepatosplenomegaly (vs. Niemann-Pick)

87
Q

what is the enzyme deficiency, accumulated substrate and clinical findings of Krabbe disease

A

galactocerebrosidase deficiency;
galactocerebroside and psychosine accumulate;
findings: peripheral neuropathy, developmental delay, optic atrophy, globoid cells

88
Q

what is the enzyme deficiency, accumulated substrate and clinical findings of metachromatic leukodystrophy

A

arylsulfatase A deficiency;
cerebroside sulfate accumulates;
findings: central and peripheral demyelination with ataxia, dementia

89
Q

what is the enzyme deficiency, accumulated substrate and clinical findings of Hurler syndrome

A

alpha-L-iduronidase deficiency;
heparan sulfate and dermatan sulfate accumulate;
findings: developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

90
Q

what is the enzyme deficiency, accumulated substrate and clinical findings of Hunter syndrome

A

iduronate sulfatase deficiency;
haparan sulfate and dermatan sulfate accumulate;
findings: same as Hurler, but milder + aggressive behavior, but no corneal clouding

91
Q

what molecule is required in order to transport long chain fatty acids into mitochondrial matrix for degradation

A

carnitine

92
Q

what are the clinical effects of carnitine deficiency

A

weakness, hypotonia, and hypoketotic hypoglycemia

93
Q

what does the citrate shuttle do vs. the carnitine shuttle

A

citrate shuttle transports acetyl-CoA to the cytoplasm in the form of citrate for synthesis of fatty acids
carnitine shuttle transports acyl-CoA into mitochondria for degredation

94
Q

in the liver, fatty acids and amino acids are metabolized to _________ and ________ so that they can be used by the brain and muscle

A

acetoacetate and beta-hydroxybutyrate

95
Q

explain how starvation, DKA and alcoholism both cause overproduction of ketone bodies

A

in starvation and DKA oxaloacetate is depleted for gluconeogenesis, causing a build up of acetyl-CoA;
in alcoholism, excess NADH shunts oxaloacetate to acetyl-CoA;
in both cases acetyl-CoA shunts glucose and FFAs toward production of ketones

96
Q 
how many calories in:
fat
carbohydrate
protein
alcohol
A

1g of fat= 9 kcal
1g of carbohydrate= 4 kcal
1g of protein= 4 kcal
1g of alcohol= 7 kcal

97
Q

of these energy sources (creatine phosphate, aerobic metabolism, anaerobic metabolism, stored ATP) list which peak at:
-0 sec, 5 sec, 30 sec, 1 hour

A

0 sec: stored ATP
5 sec: creatine phosphate
30 sec: anaerobic metabolism
1 hour: aerobic metabolism

98
Q

during starvation how long does it take for glycogen reserves to deplete

A

1 day (UWorld says 12-18 hours)

99
Q

which cell type cannot use ketones and why

A

RBCs cannot use ketones because they lack mitochondria

100
Q

what processes occur during the first 3 days of starvation

A

depletion of glycogen reserves in liver;
release of FFA from adipocytes;
muscle and liver use FFA instead of glucose;
hepatic gluconeogenesis (uses alanine, lactate, glycerol, proprionyl CoA from odd-chain FFAs)

101
Q

after day 3 of starvation what determines how quickly protein degradation and organ failure will ensue

A

amount of adipose stores (soon after adipose stores are depleted the body will shift to protein degradation for energy)

102
Q

what is the enzyme and reaction of the rate-limiting step of cholesterol synthesis

A

HMG-CoA reductase converts HMG-CoA to mevalonate

103
Q

what drug is a reversible competitive inhibitor of HMG-CoA reductase

A

statins

104
Q

list the enzymes and intermediates in the pathway from VLDL in the liver to LDL in the blood

A

VLDL –> IDL via lipoprotein lipase

IDL –> LDL via hepatic TG lipase

105
Q

what does hormone-sensitive lipase do vs. what pancreatic lipase does

A

hormone-sensitive lipase degrades TG stored in adipocytes

pancreatic lipase degrades dietary TGs in the small intestines

106
Q

2/3 of plasma cholesterol is esterified by _______

A

lecithin-cholesterol acyltransferase (LCAT)

107
Q

what does cholesterol ester transfer protein (CETP) do

A

mediates transfer of cholesterol esters from HDL to other lipoproteins (VLDL, IDL, LDL)

108
Q

in which lipid particles (i.e. chylomicron, VLDL, IDL, LDL, HDL) will you find Apolipoprotein-E

A

chylomicron, VLDL, IDL, HDL

not LDL

109
Q

in which lipid particles (i.e. chylomicron, VLDL, IDL, LDL, HDL) will you find Apolipoprotein-B100

A

VLDL, IDL, LDL

110
Q

what does apolipoprotein-B48 do

A

mediates chylomicron secretion (so it is found only in chylomicrons and chylomicron remnants)

111
Q

what does apolipoprotein-CII do

A

lipoprotein lipase cofactor

112
Q

what does apolipoprotein-AI do

A

activates LCAT (so it is found in chylomicrons and HDL)

113
Q

what are lipoproteins composed of

A

cholesterol, TGs, and phospholipids

114
Q

which lipoproteins carry the most cholesterol

A

LDL and HDL

115
Q

LDL transports cholesterol from where to where

A

LDL transports cholesterol from liver to tissues

116
Q

HDL transports cholesterol from where to where

A

HDL transports cholesterol from tissues to liver

117
Q

where do chylomicrons come from and what do they do

A

they’re secreted by intestinal epithelial cells and they transport TGs to tissues and cholesterol to liver in the form of chylomicrons (which are mostly depleted of their TGs)

118
Q

where does VLDL come from and what does it do

A

secreted by liver; transports hepatic TGs to tissues

119
Q

where does IDL come from and what does it do

A

IDL is formed via breakdown of VLDL;

it delivers TGs and cholesterol to liver

120
Q

where does LDL come from and what does it do

A

formed from IDL via hepatic lipase;

it delivers cholesterol from liver to tissues

121
Q

where does HDL come from

A

secreted by liver and intestines

122
Q

what lipoproteins does HDL harbor and why is this important

A

HDL holds Apolipoproteins E and C (as well as A);

E and C are important for chylomicron and VLDL metabolism

123
Q

alcohol increases synthesis of what lipoprotein (i.e. IDL, VLDL, HDL, LDL, chylomicron)

A

HDL

124
Q

name 3 familial dyslipidemias

A
  1. type I = hyperchylomicronemia
  2. type IIa = familial hypercholesterolemia
  3. type IV = hypertriglyceridemia
125
Q

what is the inheritance pattern of hyperchylomicronemia and what’s the inherited defect

A

autosomal recessive;

lipoprotein lipase deficiency or altered apolipoprotein-C2 (lipoprotein lipase cofactor)

126
Q

what is increased in the blood in hyperchylomicronemia

A

chylomicrons, TG, cholesterol

127
Q

what is the inheritance pattern of familial hypercholesterolemia and what is the inherited defect

A

autosomal dominant;

absent or defective LDL receptors

128
Q

is there a difference between familial hypercholesterolemia heterozygotes and homozygotes?

A

yes;
although the disease is autosomal dominant expression levels vary
homozygotes: around 700+ mg/dL
heterozygotes: around 300mg/dL

129
Q

what symptoms would you look for in a patient with familial hypercholesterolemia;
what fatal complication may occur

A

xanthomas, corneal arcus

accelerated atherosclerosis can progress to MI

130
Q

what is the inheritance pattern of familial hypertriglyceridemia and what is the inherited defect

A

autosomal dominant;

hepatic overproduction of VLDL

131
Q

what serious complication can arise from familial hypertriglyceridemia

A

pancreatitis

Biochemistry- First Aid (6 decks)

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