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Biochem FA Flashcards

1
Q

What is peroxisomal disease causes scaly skin, ataxia, cataracts, shortening of the 4th toe and epiphyseal dysplasia?

A

Refsum disease

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2
Q

What are the 4 main ways of getting B12 deficiency?

A

Malabsorption - D. Latum, celiac
Lack of intrinsic factor
No terminal ileum
Vegan

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3
Q

CFs of Homocystinuria?

A 
Inc Homocysteine in urine
Osteoporosis
Marafanoid body
Ocular changes
CVA effects
KYphosis
Retard
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4
Q

Classic galactosemia is an absence of what?

Inheritance?

A

Galactose-1-phosphate uridyltransferase

AR

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5
Q

How do you dx B1 deficiency?

A

Increase in rbc transketolase activity following B1 admin

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6
Q

What is Vit B6 called?

B7?

B12?

A

Pyridoxine: PLP

Biotin

cobalamin

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7
Q

What are the glycogen storage disease I-V?

Inheritance?

A 
Very Poor Carbohydrate Metabolism
I - Von Gierke
II- Pompe
III - Cori
V - McArdle

AR

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8
Q

What can be used to treat APL?

A

All Trans retinoic acid

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9
Q

Souther blot tests what?

Northern?

Western?

A

SNoW DRoP –> DNA

RNA

Protein

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10
Q

What drugs can cause folate deficiency?

Vit what?

A

PMS - phenytoin, methotrexate, sulfonamides

B9

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11
Q

Thiamine is required for which enzyme reactions?

A 
think ATP:
Alpha-ketoglutarate dehydrogenase (TCA)
Transketolase (HMP shunt)
Pyruvate dehydrogenase (TCA)
branched-chain ketoacid dehydrogenase
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12
Q

What inhibits ribonucleotide reductase?

A

Hydroxyurea

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13
Q

What confirmatory test is used for HIV after ELISA?

A

Western blot

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14
Q

What manifests as elfin facies, intellectual disability, hypercalcemia, extreme friendliness w/strangers and cardiovascular problems?

Ch.?

A

Williams syndrome

Deletion ch. 7

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15
Q

What familial dyslipidemias have AR inheritance?

A

I, III
Hyperchylomicronemia - LPL or ApoCII deficiency
Dysbeta-lipoproteinemia - defective ApoE

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16
Q

ApoA-I fx?

A

Activates LCAT

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17
Q

What disease shows inappropriate laughter, seizures, ataxia, and mental retard?

Due to what?

A

Angelman syndrome

Imprinting - maternal gene deleted

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18
Q

Dec affinity of cystathionine synthase for what can result in Homocystinuria?

A

Pyridoxal phosphate (B6)

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19
Q

Vit E fx?

Deficiency causes what?

A

Antioxidant

Hemolytic anemia, acanthocytosis, m. Weakeness

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20
Q

What is a disorder in which there is a defect in N-acetylglucosaminyl-1-phosphotransferase, decreased M6P, and results in course facial features, clouded corneas, restricted joint movement?

Presents when?

What abnormal lab value?

A

Inclusion cell disease

Childhood, fatal

High levels of lysosomal enzymes

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21
Q

What presents w/severe fat malabsorption, steatorrhea, failure to thrive. Later it presents w/retinitis pigmentosa, spinocerebellar degeneration, ataxia, acanthocytosis?

Tx?

A

Abetalipoproteinemia

Restrict long chain FAs, Give Vitamin E

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22
Q

1g carb produces how many Cal?

1g alcohol?

1g FA?

A

4

7

9

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23
Q

Type 1 collagen is found in what?

2?

A

Bone

Cartilage aka carTWOlage, virtreous body, nucleus pulposus

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24
Q

G6PD produces what kind of rbc changes?

Most common in whom? Why?

A

Heniz bodies
Bite Cell

AA’s, increased malarial resistance

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25
Q

What is type 3 cartilage?

Deficiency results in what?

A

Reticulin, blood vessels, skin, uterus, fetal tissue

Vascular type Ehlers-Danlos

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26
Q

What inhibits DHF reductase?

A

Methotrexate
Trimethoprim
Pyrimethamine

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27
Q

Kwashiorkor results from what?

CFs?

A

Protein malnutrition

MEALS
Malnutrition
Edema
Anemia
Liver (fatty)
Skin lesions
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28
Q

Vit B9 is converted to what?
Important for what reactions?

Deficiency causes what 2 main conditions?

A

THF
Synthesis of nitrogenous bases in DNA and RNA

Macrocytic/megaloblastic anemia and hypersegmented polymorphonuclear cells (PMNs)

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29
Q

B3 is derived from what a.a.?
What is derived from B3?

Deficiency leads to what?

A

Tryptophan
NAD (3 ATP)

Pellagra - diarrhea, dementia, dermatitis (hyperpigmentation of sun-exposed limbs)

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30
Q

What is the result of absent HGPRT?

Inheritance?

CFs?

A

Leach-Nyhan syndrome

X-linked recessive

Hyperuricemia, gout, Pissed off (self-mutilation), retard, dysTonia

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31
Q

Von Gierke disease has what deficient enzyme?

Main CFs?

Tx?

A

Glucose-6-phosphate

Severe fasting hypoglycemia, HM (Inc glycogen in liver), Inc uric acid, blood lactate, etc

Freq oral glucose/cornstarch, NO fructose/galactose –> impaired gluconeogensis and glycogenolysis

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32
Q

What familial dyslipidemias have AD inheritance?

A

II, IV
Familial hypercholesterolemia - absent LDL
Hyper Triglyceridemia - overproduction of VLDL

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33
Q

Dry beriberi has what sx?

Wet?

A

Polyneuritis, symmetrical muscle wasting

High output cardiac failure (dilated cardiomyopathy), edema

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34
Q

What inhibits Dihydroorotate dehydrogenase?

A

Leflunomide

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35
Q

What is the most common urea cycle disorder which will have findings of orotic acid in the blood and urine w/dec BUN?

Inheritance?

A

Orinthine transcarbamylase deficiency

X-linked recessive

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36
Q

Tay-Sachs has what deficient enzyme?

What accumulates?

Cfs?

A

Hexosaminidase A

GM2 ganglioside

Neurodegeneration, Cherry red spot on macula, lysosomes w/onion skin

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37
Q

Cystinuria can cause what kind of stones?

Tx?

A

Hexagonal cystine stones

Urinary alkalization, chelating agents

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38
Q

What is the cori cycle?

A

Pyruvate —> Lactate

LDH

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39
Q

FA synthesis starts where? Ends where?

Requires what starting material?

What special process? What enzyme?

A

Mitochondria, ends in cytosol

Citrate

Citrate shuttle, ATP citrate lyase

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40
Q

What is a mutation at different loci which can produce a similar phenotype called?

Ex?

A

Locus heterogeneity

Albinism

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41
Q

Gaucher disease deficient enzyme?

What accumulates?

CFs?

A

Glucocerebrosidase (beta-glucosidase)

Glucocerebroside

MOST COMMON - HSM, pancytopenia, osteoporosis

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42
Q

Krabbe disease deficient enzyme?

What substrate accumulates?

CFs?

A

Galactocerebrosidase

” “ psychosine

Peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy, globoid cells

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43
Q

Deficiency of alpha-L-iduronidase causes what?

Inheritance?

CF?

A

Hurler syndrome

AR

Developmental delay, gargoyle, CORNEAL clouding, HSM

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44
Q

What causes PKU?

CFs?

Tx?

A

Decreased Phenylalanine hydroxylase or Decreased BH4

Intellectual disability, growth retardation

Dec phenylalanine and Increase Tyrosine intake

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45
Q

Anticipation is seen in what conditions?

A

Trinucleotide repeat disease - ex. Huntington’s

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46
Q

B12 is a cofactor for what reactions?

Prolonged deficiency leads to what?

A

Methionine synthase and methylmalonyl-CoA mutase

Irreversible nerve damage

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47
Q

ApoB48 fx?

A

Mediates chylomicron secretion into lymphatics

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48
Q

Cystic fibrosis mutation? What ch.?

Inheritance?

CFs?

A

CFTR, ch. 7

AR

Recurrent pulmonary infections, nasal polyps, clubbing of nails

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49
Q

Arsenic inhibits what?

Which stops what?

A

Lipoic acid

PDH complex

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50
Q

What a.a. Are basic?

Most basic is which one?

+ or - charged?

A

His Lys Are (Arginine) Basic

Arginine

+

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51
Q

Lactase deficiency demonstrates what in the stool in terms of:
pH?

Hydrogen?

A

Dec pH

Inc Hydrogen

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52
Q

Increased homocysteine but normal methylmalonic acid level indicates what?

What special feature about it?

A

1 vit def in US

Folate def.

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53
Q

What are the 4 irreversible enzymes in gluconeogenesis?

A

Pathway Produces Fresh Glucose

Pyruvate carboxylase in mito. Pyruvate –> oxaloacetate
PEP carboxykinase in cytosol. oxaloacetate –> PEP
F-1,6-BPtase in cytosol
G6Ptase in ER

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54
Q

Is PFK-2 or FBPase-2 active in the fasting state?

What is increased?

Result?

A

FBPase-2

cAMP, PKA

More gluconeogenesis

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55
Q

Defect of NER results in what?

Prevents repair of what?

A

Xeroderma pigmentosum

Pyrimidine dimers

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56
Q

Cori disease deficient enzyme?

Cfs?

A

Debra Ching enzyme alpha-1,6-glucosidase

Accumulation of limit dextrin-like structures in cytosol

57
Q

What is the storage form of Vit D?

Active?

A

25-OH D3

1,25-(OH)2 D3

58
Q

Menkes disease CFs?

A

Brittle, kinky hair, growth retardation, hypotonia

Menke is KINKY

59
Q

MMR defect results in what?

Works in what phase of cell cycle?

A

Lynch syndrome (HNPCC)

G2

60
Q

CFs of OI?

A 
pts can't BITE
Bones - multiple fractures
I (eye) - blue sclera
Teeth - dental imperfections
Ear - hearing loss
61
Q

Niemann Pick disease deficient enzyme?

What accumulates?

CFs?

A

Sphingomyelinase

Sphingomyelin

Progressive neurodegeneration, HSM, foam cells, cherry red spot on macula

62
Q

Urea cycle stages?

A 
Ordinarily 
Careless 
Crappers
Are Also
Frivilous
About 
Urination
63
Q

What is a lipid laden macrophage resembling crumbled tissue paper called?

A

Gaucher cell

64
Q

What disease is an example of Mosiacism?

Mutation in what?

CFs?

A

McCune-Albright syndrome

G-protein signaling

Cafe au lait, fibrous dysplasia, endocrinopathy (precocious puberty)

65
Q

What causes severe CNS defects, intellectual disability and eventually death. It presents w/vomiting, poor feeding?

Tx?

A

Maple syrup disease

BCAAs + Thiamine

66
Q

What causes asterixis (tremor)?

Does what?

How to tx underlying cause?

A

Hyperammonemia

Inhibits TCA cycle

Limit protein in diet

67
Q

What is malnutrition not causing edema, results in muscle wasting due to a diet deficient in calories?

68
Q

What syndrome causes decreased fertility, bronchiectasis, recurrent sinusitis, chronic ear infections, hearing loss and situs inversus?

Defect in what?

A

Kartagener’s syndrome (primary ciliary dyskinesia)

dynein

69
Q

Build up of what substrate can shunt glucose and FFA towards production of ketone bodies?

Due to what being depleted?

A

Acetyl-CoA

Oxaloacetate

70
Q

Marfan’s has what gene mutation?

What ch.?

71
Q

What cofactor is needed in the synthesis of heme, cystathinonine, niacin, histamine and neurotransmitters?

A

Vit B6 (pyridoxine)

72
Q

Hydroxylation of collagen requires what amino acids?

What vitamin co factor?

A

lysine, proline

Vit C

73
Q

McArdle disease deficient enzyme?

Cfs?

A

Skeletal m. Glycogen phosphorylase (Myophosphorylase)

Inc Glycogen in muscle but CANNOT break it down
Painful muscle cramps, myoglobinuria, arrhythmia
2nd wind phenomenon

74
Q

What activates PDH complex?

A

INC NAD+
INC ADP
INC Ca

75
Q

What is a different mutation in the same locus producing the same phenotype?

Ex?

A

Allelic heterogeneity

Beta-thalassemia

76
Q

What disease is due to a defect in peroxisomes and causes hypotonia, seizures, HM, early death?

A

Zellweger

Renee zellweger sucks, proximately causes death

77
Q

Vimentin is found in what tumors?

A

Mesenchymal
EndoMEtrial carcinoma
RCC
MEningioma

78
Q

What is caused by a deficiency in ApoB48 and ApoB100?

What is absent?

Inheritance?

A

Abetalipoproteinemia

Chylomicrons, VLDL, LDL

AR

79
Q

What are 3 uncoupling agents?

What do they do?

A

2,4-Dinitrophehnol, ASA, thermogenin

Produce heat

80
Q

Deficiency of iduronidate sulfatase causes what?

Inheritance?

CF?

A

Hunter syndrome

X-linked recessive

Mild Hurler + aggressive behavior, no cornea involvement

81
Q

What causes cystinuria?

Prevents reabsorption of what?

What is diagnostic?

A

Defect of renal PCT and intestinal a.a. Transporter

COLA - cysteine, ornithine, lysine, arginine

Urinary cyanide-nitroprusside test

82
Q

ApoB100 contains what?

A

VLDL
IDL
HDL

83
Q

Deficiency of what causes SCID?

Inheritance?

84
Q

Homocysteine —-> Cystathionine requires what enzyme?
What cofactor?

Deficiency results in what?

A

Cystationine synthase
B6

Homocystinuria

85
Q

What ribosomal subunits found in prokaryotes?

A

30S + 50S –> 70S

ODD

86
Q

Classic type of Ehlers-Danlos is what mutation?

Vascular type?

A

COL5A1 or COL5A2

Type 3 collagen

87
Q

What is a complex 4 inhibitor of the ETC?

Complex 3?

Complex 1?

A

CO/CN-

antimycin (an3mycin)

Rotenone

88
Q

B2 deficiency leads to what?

A

2 C’s
Cheilosis (fucked up lips)
Corneal vascularization

Has 2 ATP

89
Q

PDH deficiency causes a build up of what?

Inheritance?

CFs?

Tx?

A

Lactate and alanine

X-linked

Neurologic defects, lactic acidosis

Lysine and Leucine - pureLy ketogenic a.a.’s

90
Q

What does the urinary cyanide-nitroprusside test diagnose?

Inheritance?

A

Cystinuria

AR

91
Q

What can precipitate G6PD?

A

Fava beans
Sulfonamides
primaquine
Anti-Tb drugs

92
Q

Vit K is a cofactor for what?

Synthesized how?

A

Gamma-carboxylation of glutamic acid residues

Intestinal flora

93
Q

What disease is due to a deficiency in neutral amino acid transporters in proximal renal tubular cells and causes pellagra-like symptoms?

Inheritance?

Tx?

A

Hartnup disease

AR

High-protein diet and nicotinic acid

94
Q

What are the ketone bodies?

Urine test for ketones can detect what?

A

Acetone, acetoacetate, beta-hydroxybutyrate

ONLY acetoacetate

95
Q

What are the 4 trinucleotide diseases w/their repeats?

A

Huntington’s - CAG
Myotonic Dystrophy - CTG
Fragile X - CGG
Friedreich ataxia - GAA

96
Q

Menkes disease mutation?

Inheritance?

Decreased activity in what?

A

ATP7A

x-linked recessive

Lysyl oxidase

97
Q

Wenicke-Korsakoff syndrome causes damage to what structures?

A

Medial dorsal nucleus of thalamus

Mammillary bodies

98
Q

What causes osteogenesis imperfecta?

Inheritance?

A

Deficiency in COL1A1 or COL1A2

AD

99
Q

What does the pentose phosphate pathway produce (HMP shunt)

100
Q

Fragile X syndrome mutation?

Inheritance?

CFs?

A

CGG trinucleotide repeat on FMR1 gene

X-linked dominant

long face w/long jaw, autism, giant gonads, MVP

101
Q

Fabry disease deficient enzyme?

Accumulated substrate?

Inheritance?

CFs?

A

alpha-galactosidase A

Ceramics trihexoside

X-linked recessive

Peripheral neuropathy, angiokeratomas, hypohidrosis, late- Renal failure

102
Q

FA degradation requires what special process?

What can inhibit it?

A

Carnitine shuttle

Malonyl-CoA

103
Q

Homocysteine —> Methionine requires what enzyme?
What cofactor?

Deficiency results in what?

A

Methionine synthase
B12

Homocystinuria

104
Q

What is the Cahill cycle?

A

Pyruvate —> alanine

ALT

105
Q

Fructose intolerance is a hereditary deficiency of what?
Inheritance?

CFs?

A

Aldolase B
AR

Hypoglycemia, jaundice, cirrhosis, vomiting

106
Q

What amino acids are needed for purine synthesis?

A

GAG
Glycine
Aspartate
Glutamine

107
Q

Increased NADH/NAD+ ratio leads to production of what?

Decreased what?

A

Lactate - lactic acidosis
Malate - prevents gluconeogenesis –> fasting hypoglycemia

TCA

108
Q

What syndrome shows microcephaly, intellectual disability, high-pitched crying or meowing, VSD?

Ch.?

A

Cri-du-chat syndrome

5

109
Q

Phosphoenolpyruvate –> pyruvate via what enzyme?

Pyruvate –> acetyl coA via what enzyme?
What cofactor?

A

Pyruvate kinase

PDH, B1

110
Q

Glucose —-> Sorbitol w/what enzyme?

Needs what cofactor?

A

Aldose reductase

NADPH

111
Q

Where is LPL found?

What does Hepatic Lipase degrade?

A

Vascular endothelial surface

TGs remaining in IDL

112
Q

Vit B7 used for what?

Deficiency how?

A

Carboxylation enzymes which add 1 carbon group

Antibiotics or eating raw egg whites

113
Q

What inhibits de novo purine synthesis?

A

6-mercaptopurine

Azathioprine

114
Q

What ribosomal subunits found in Eukaryotes?

A

40S + 60S –> 80S

EVEN

115
Q

2nd-trimester quad screen showing Dec AFP, Dec estriol and Inc B-hCG and Inc inhibin A indicates what?

A

Down syndrome

116
Q

What cell types are permanent (remain in G0)?

A

Neurons
Skeletal m.
Cardiac m.
Rbc’s

117
Q

What causes maple syrup urine disease?

Inheritance?

Causes what in the blood?

A

Blocked degradation of Val, IsoLeu, Leu

AR

Increased alpha-ketoacids

118
Q

Myotonic type 1 what is a mutation in what?

Inheritance?

CFs?

A

CTG trinucleotide repeat

AD

Cataracts, toupee (balding), Gonadal atrophy –> CTG

119
Q

Vit K deficiency presents how?

A

neonatal hemorrhage w/INC PT and inc aPTTT

NORMAL bleeding time

120
Q

Is PFK-2 or FBPase-2 active in the fed state?

What is decreased/increased?

Result?

A

PFK-2

Inc insulin, Dec cAMP, PKA

Less gluconeogenesis

121
Q

Metachromatic luekodystrophy deficient enzyme?

What accumulates?

CFs?

A

Arylsulfatase A

Cerebroside sulfate

Central and peripheral demyelination w/ataxia, dementia

122
Q

What causes alkaptonuria?

Messes up what pathway?

Inheritance?

A

Homogentisate oxidase deficiency

Degradation pathway of Tyrosine to fumarate

AR

123
Q

What nucleotide has a methyl group?

124
Q

G6PD means you are not producing what?

Inheritance?

CFs?

A

NADPH

X-linked

Infection producing hemolysis

125
Q

Lack of B12 leads to degeneration of what anatomical structures?

A

Dorsal columns
LCST
Spinocerebellar tracts

126
Q

What is Vitamin B2 called?

B5?

B9?

A

Riboflavin: FAD, FMN

Pantothenic acid: CoA

Folate

127
Q

Vitamin C is needed for synthesis of what?

Is an ancillary tx for what?

A

Hydroxylation of collagen synthesis
Dopamine B-hydroxylase

Methemoglobinemia by reducing Fe3+ to Fe2+

128
Q

What does the TCA cycle produce?

A 
3 NADH
1 FADH2
2 CO2
1 GTP 
Per acetyl-CoA = 10 ATP, 2x everything for glucose
129
Q

Pompe disease what deficient enzyme?

Cfs?

A

Lysosomal acid alpha-1,4-glucosidase (acid maltase)

Cardiomegaly, HOCM, hypotonia, exercise intolerance –> early death

130
Q

Prader-Willi syndrome is a result of what defect?

Sx?

A

Imprinting - paternal gene is deleted

Hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia

131
Q

Vit B5 is needed for what?

Def. causes what?

A

Coenzyme A, FA synthesis

Dermatitis, enteritis, alopecia, AI

132
Q

What inhibits thymidylate synthase?

133
Q

PDH complex requires which 5 cofactors?

A 
The Lovely Co-enzymes For Nerds
Thiamine
Lipoic acid 
CoA (B5)
FAD (B2)
NAD+ (B3)
134
Q

Edwards syndrome has what CFs?

A 
PRINCE Edward
Prominent occiput
Rocker-bottom feet
Intellectual disability
Nondisjunction
Clenched fists
Low-set ears
135
Q

Vit B6 is a cofactor for what major reactions?

Can cause what conditions?

A

Transamination (ALT/AST), decarboxylation, glycogen phosphorylase

Sideroblastic anemia

136
Q

Where is hexokinase located?

Glucokinase?

Which is induced by insulin?

A

Most tissues

Liver, B cells of pancreas

Glucokinase

137
Q

What inhibits IMP dehydrogenase?

A

Mycophenolate

Ribavirin

138
Q

What does HSL degrade?

A

TGs stored in adipocytes

139
Q

What causes a musty body odor?

Disorder of what?

Inheritance?

A

PKU

Aromatic a.a. Metabolism

AR

(Other) Board Prep (19 decks)

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