Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Board Prep > Biochem FA > Flashcards

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

CFs of Homocystinuria?

A 
Inc Homocysteine in urine
Osteoporosis
Marafanoid body
Ocular changes
CVA effects
KYphosis
Retard
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Classic galactosemia is an absence of what?

Inheritance?

A

Galactose-1-phosphate uridyltransferase

AR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

How do you dx B1 deficiency?

A

Increase in rbc transketolase activity following B1 admin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is Vit B6 called?

B7?

B12?

A

Pyridoxine: PLP

Biotin

cobalamin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What can be used to treat APL?

A

All Trans retinoic acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Souther blot tests what?

Northern?

Western?

A

SNoW DRoP –> DNA

RNA

Protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What drugs can cause folate deficiency?

Vit what?

A

PMS - phenytoin, methotrexate, sulfonamides

B9

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What inhibits ribonucleotide reductase?

A

Hydroxyurea

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What confirmatory test is used for HIV after ELISA?

A

Western blot

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

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

Ch.?

A

Williams syndrome

Deletion ch. 7

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What familial dyslipidemias have AR inheritance?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

ApoA-I fx?

A

Activates LCAT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

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

Due to what?

A

Angelman syndrome

Imprinting - maternal gene deleted

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

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

A

Pyridoxal phosphate (B6)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Vit E fx?

Deficiency causes what?

A

Antioxidant

Hemolytic anemia, acanthocytosis, m. Weakeness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

1g carb produces how many Cal?

1g alcohol?

1g FA?

A

4

7

9

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Type 1 collagen is found in what?

2?

A

Bone

Cartilage aka carTWOlage, virtreous body, nucleus pulposus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

G6PD produces what kind of rbc changes?

Most common in whom? Why?

A

Heniz bodies
Bite Cell

AA’s, increased malarial resistance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
What is type 3 cartilage? Deficiency results in what?
Reticulin, blood vessels, skin, uterus, fetal tissue Vascular type Ehlers-Danlos
26
What inhibits DHF reductase?
Methotrexate Trimethoprim Pyrimethamine
27
Kwashiorkor results from what? CFs?
Protein malnutrition ``` MEALS Malnutrition Edema Anemia Liver (fatty) Skin lesions ```
28
Vit B9 is converted to what? Important for what reactions? Deficiency causes what 2 main conditions?
THF Synthesis of nitrogenous bases in DNA and RNA Macrocytic/megaloblastic anemia and hypersegmented polymorphonuclear cells (PMNs)
29
B3 is derived from what a.a.? What is derived from B3? Deficiency leads to what?
Tryptophan NAD (3 ATP) Pellagra - diarrhea, dementia, dermatitis (hyperpigmentation of sun-exposed limbs)
30
What is the result of absent HGPRT? Inheritance? CFs?
Leach-Nyhan syndrome X-linked recessive Hyperuricemia, gout, Pissed off (self-mutilation), retard, dysTonia
31
Von Gierke disease has what deficient enzyme? Main CFs? Tx?
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
32
What familial dyslipidemias have AD inheritance?
II, IV Familial hypercholesterolemia - absent LDL Hyper Triglyceridemia - overproduction of VLDL
33
Dry beriberi has what sx? Wet?
Polyneuritis, symmetrical muscle wasting High output cardiac failure (dilated cardiomyopathy), edema
34
What inhibits Dihydroorotate dehydrogenase?
Leflunomide
35
What is the most common urea cycle disorder which will have findings of orotic acid in the blood and urine w/dec BUN? Inheritance?
Orinthine transcarbamylase deficiency X-linked recessive
36
Tay-Sachs has what deficient enzyme? What accumulates? Cfs?
Hexosaminidase A GM2 ganglioside Neurodegeneration, Cherry red spot on macula, lysosomes w/onion skin
37
Cystinuria can cause what kind of stones? Tx?
Hexagonal cystine stones Urinary alkalization, chelating agents
38
What is the cori cycle?
Pyruvate ---> Lactate | LDH
39
FA synthesis starts where? Ends where? Requires what starting material? What special process? What enzyme?
Mitochondria, ends in cytosol Citrate Citrate shuttle, ATP citrate lyase
40
What is a mutation at different loci which can produce a similar phenotype called? Ex?
Locus heterogeneity Albinism
41
Gaucher disease deficient enzyme? What accumulates? CFs?
Glucocerebrosidase (beta-glucosidase) Glucocerebroside MOST COMMON - HSM, pancytopenia, osteoporosis
42
Krabbe disease deficient enzyme? What substrate accumulates? CFs?
Galactocerebrosidase " " psychosine Peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy, globoid cells
43
Deficiency of alpha-L-iduronidase causes what? Inheritance? CF?
Hurler syndrome AR Developmental delay, gargoyle, CORNEAL clouding, HSM
44
What causes PKU? CFs? Tx?
Decreased Phenylalanine hydroxylase or Decreased BH4 Intellectual disability, growth retardation Dec phenylalanine and Increase Tyrosine intake
45
Anticipation is seen in what conditions?
Trinucleotide repeat disease - ex. Huntington's
46
B12 is a cofactor for what reactions? Prolonged deficiency leads to what?
Methionine synthase and methylmalonyl-CoA mutase Irreversible nerve damage
47
ApoB48 fx?
Mediates chylomicron secretion into lymphatics
48
Cystic fibrosis mutation? What ch.? Inheritance? CFs?
CFTR, ch. 7 AR Recurrent pulmonary infections, nasal polyps, clubbing of nails
49
Arsenic inhibits what? Which stops what?
Lipoic acid PDH complex
50
What a.a. Are basic? Most basic is which one? + or - charged?
His Lys Are (Arginine) Basic Arginine +
51
Lactase deficiency demonstrates what in the stool in terms of: pH? Hydrogen?
Dec pH Inc Hydrogen
52
Increased homocysteine but normal methylmalonic acid level indicates what? What special feature about it?
Folate def. #1 vit def in US
53
What are the 4 irreversible enzymes in gluconeogenesis?
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
54
Is PFK-2 or FBPase-2 active in the fasting state? What is increased? Result?
FBPase-2 cAMP, PKA More gluconeogenesis
55
Defect of NER results in what? Prevents repair of what?
Xeroderma pigmentosum Pyrimidine dimers
56
Cori disease deficient enzyme? Cfs?
Debra Ching enzyme alpha-1,6-glucosidase Accumulation of limit dextrin-like structures in cytosol
57
What is the storage form of Vit D? Active?
25-OH D3 1,25-(OH)2 D3
58
Menkes disease CFs?
Brittle, kinky hair, growth retardation, hypotonia Menke is KINKY
59
MMR defect results in what? Works in what phase of cell cycle?
Lynch syndrome (HNPCC) G2
60
CFs of OI?
``` pts can't BITE Bones - multiple fractures I (eye) - blue sclera Teeth - dental imperfections Ear - hearing loss ```
61
Niemann Pick disease deficient enzyme? What accumulates? CFs?
Sphingomyelinase Sphingomyelin Progressive neurodegeneration, HSM, foam cells, cherry red spot on macula
62
Urea cycle stages?
``` Ordinarily Careless Crappers Are Also Frivilous About Urination ```
63
What is a lipid laden macrophage resembling crumbled tissue paper called?
Gaucher cell
64
What disease is an example of Mosiacism? Mutation in what? CFs?
McCune-Albright syndrome G-protein signaling Cafe au lait, fibrous dysplasia, endocrinopathy (precocious puberty)
65
What causes severe CNS defects, intellectual disability and eventually death. It presents w/vomiting, poor feeding? Tx?
Maple syrup disease BCAAs + Thiamine
66
What causes asterixis (tremor)? Does what? How to tx underlying cause?
Hyperammonemia Inhibits TCA cycle Limit protein in diet
67
What is malnutrition not causing edema, results in muscle wasting due to a diet deficient in calories?
Marasmus
68
What syndrome causes decreased fertility, bronchiectasis, recurrent sinusitis, chronic ear infections, hearing loss and situs inversus? Defect in what?
Kartagener's syndrome (primary ciliary dyskinesia) dynein
69
Build up of what substrate can shunt glucose and FFA towards production of ketone bodies? Due to what being depleted?
Acetyl-CoA Oxaloacetate
70
Marfan's has what gene mutation? What ch.?
FBN1 15
71
What cofactor is needed in the synthesis of heme, cystathinonine, niacin, histamine and neurotransmitters?
Vit B6 (pyridoxine)
72
Hydroxylation of collagen requires what amino acids? What vitamin co factor?
lysine, proline Vit C
73
McArdle disease deficient enzyme? Cfs?
Skeletal m. Glycogen phosphorylase (Myophosphorylase) Inc Glycogen in muscle but CANNOT break it down Painful muscle cramps, myoglobinuria, arrhythmia 2nd wind phenomenon
74
What activates PDH complex?
INC NAD+ INC ADP INC Ca
75
What is a different mutation in the same locus producing the same phenotype? Ex?
Allelic heterogeneity Beta-thalassemia
76
What disease is due to a defect in peroxisomes and causes hypotonia, seizures, HM, early death?
Zellweger Renee zellweger sucks, proximately causes death
77
Vimentin is found in what tumors?
Mesenchymal EndoMEtrial carcinoma RCC MEningioma
78
What is caused by a deficiency in ApoB48 and ApoB100? What is absent? Inheritance?
Abetalipoproteinemia Chylomicrons, VLDL, LDL AR
79
What are 3 uncoupling agents? What do they do?
2,4-Dinitrophehnol, ASA, thermogenin Produce heat
80
Deficiency of iduronidate sulfatase causes what? Inheritance? CF?
Hunter syndrome X-linked recessive Mild Hurler + aggressive behavior, no cornea involvement
81
What causes cystinuria? Prevents reabsorption of what? What is diagnostic?
Defect of renal PCT and intestinal a.a. Transporter COLA - cysteine, ornithine, lysine, arginine Urinary cyanide-nitroprusside test
82
ApoB100 contains what?
VLDL IDL HDL
83
Deficiency of what causes SCID? Inheritance?
ADA AR
84
Homocysteine ----> Cystathionine requires what enzyme? What cofactor? Deficiency results in what?
Cystationine synthase B6 Homocystinuria
85
What ribosomal subunits found in prokaryotes?
30S + 50S --> 70S ODD
86
Classic type of Ehlers-Danlos is what mutation? Vascular type?
COL5A1 or COL5A2 Type 3 collagen
87
What is a complex 4 inhibitor of the ETC? Complex 3? Complex 1?
CO/CN- antimycin (an3mycin) Rotenone
88
B2 deficiency leads to what?
2 C's Cheilosis (fucked up lips) Corneal vascularization Has 2 ATP
89
PDH deficiency causes a build up of what? Inheritance? CFs? Tx?
Lactate and alanine X-linked Neurologic defects, lactic acidosis Lysine and Leucine - pureLy ketogenic a.a.'s
90
What does the urinary cyanide-nitroprusside test diagnose? Inheritance?
Cystinuria AR
91
What can precipitate G6PD?
Fava beans Sulfonamides primaquine Anti-Tb drugs
92
Vit K is a cofactor for what? Synthesized how?
Gamma-carboxylation of glutamic acid residues Intestinal flora
93
What disease is due to a deficiency in neutral amino acid transporters in proximal renal tubular cells and causes pellagra-like symptoms? Inheritance? Tx?
Hartnup disease AR High-protein diet and nicotinic acid
94
What are the ketone bodies? Urine test for ketones can detect what?
Acetone, acetoacetate, beta-hydroxybutyrate ONLY acetoacetate
95
What are the 4 trinucleotide diseases w/their repeats?
Huntington's - CAG Myotonic Dystrophy - CTG Fragile X - CGG Friedreich ataxia - GAA
96
Menkes disease mutation? Inheritance? Decreased activity in what?
ATP7A x-linked recessive Lysyl oxidase
97
Wenicke-Korsakoff syndrome causes damage to what structures?
Medial dorsal nucleus of thalamus | Mammillary bodies
98
What causes osteogenesis imperfecta? Inheritance?
Deficiency in COL1A1 or COL1A2 AD
99
What does the pentose phosphate pathway produce (HMP shunt)
NADPH
100
Fragile X syndrome mutation? Inheritance? CFs?
CGG trinucleotide repeat on FMR1 gene X-linked dominant long face w/long jaw, autism, giant gonads, MVP
101
Fabry disease deficient enzyme? Accumulated substrate? Inheritance? CFs?
alpha-galactosidase A Ceramics trihexoside X-linked recessive Peripheral neuropathy, angiokeratomas, hypohidrosis, late- Renal failure
102
FA degradation requires what special process? What can inhibit it?
Carnitine shuttle Malonyl-CoA
103
Homocysteine ---> Methionine requires what enzyme? What cofactor? Deficiency results in what?
Methionine synthase B12 Homocystinuria
104
What is the Cahill cycle?
Pyruvate ---> alanine | ALT
105
Fructose intolerance is a hereditary deficiency of what? Inheritance? CFs?
Aldolase B AR Hypoglycemia, jaundice, cirrhosis, vomiting
106
What amino acids are needed for purine synthesis?
GAG Glycine Aspartate Glutamine
107
Increased NADH/NAD+ ratio leads to production of what? Decreased what?
Lactate - lactic acidosis Malate - prevents gluconeogenesis --> fasting hypoglycemia TCA
108
What syndrome shows microcephaly, intellectual disability, high-pitched crying or meowing, VSD? Ch.?
Cri-du-chat syndrome 5
109
Phosphoenolpyruvate --> pyruvate via what enzyme? Pyruvate --> acetyl coA via what enzyme? What cofactor?
Pyruvate kinase PDH, B1
110
Glucose ----> Sorbitol w/what enzyme? | Needs what cofactor?
Aldose reductase | NADPH
111
Where is LPL found? What does Hepatic Lipase degrade?
Vascular endothelial surface TGs remaining in IDL
112
Vit B7 used for what? Deficiency how?
Carboxylation enzymes which add 1 carbon group Antibiotics or eating raw egg whites
113
What inhibits de novo purine synthesis?
6-mercaptopurine | Azathioprine
114
What ribosomal subunits found in Eukaryotes?
40S + 60S --> 80S EVEN
115
2nd-trimester quad screen showing Dec AFP, Dec estriol and Inc B-hCG and Inc inhibin A indicates what?
Down syndrome
116
What cell types are permanent (remain in G0)?
Neurons Skeletal m. Cardiac m. Rbc's
117
What causes maple syrup urine disease? Inheritance? Causes what in the blood?
Blocked degradation of Val, IsoLeu, Leu AR Increased alpha-ketoacids
118
Myotonic type 1 what is a mutation in what? Inheritance? CFs?
CTG trinucleotide repeat AD Cataracts, toupee (balding), Gonadal atrophy --> CTG
119
Vit K deficiency presents how?
neonatal hemorrhage w/INC PT and inc aPTTT | NORMAL bleeding time
120
Is PFK-2 or FBPase-2 active in the fed state? What is decreased/increased? Result?
PFK-2 Inc insulin, Dec cAMP, PKA Less gluconeogenesis
121
Metachromatic luekodystrophy deficient enzyme? What accumulates? CFs?
Arylsulfatase A Cerebroside sulfate Central and peripheral demyelination w/ataxia, dementia
122
What causes alkaptonuria? Messes up what pathway? Inheritance?
Homogentisate oxidase deficiency Degradation pathway of Tyrosine to fumarate AR
123
What nucleotide has a methyl group?
THYmine
124
G6PD means you are not producing what? Inheritance? CFs?
NADPH X-linked Infection producing hemolysis
125
Lack of B12 leads to degeneration of what anatomical structures?
Dorsal columns LCST Spinocerebellar tracts
126
What is Vitamin B2 called? B5? B9?
Riboflavin: FAD, FMN Pantothenic acid: CoA Folate
127
Vitamin C is needed for synthesis of what? Is an ancillary tx for what?
Hydroxylation of collagen synthesis Dopamine B-hydroxylase Methemoglobinemia by reducing Fe3+ to Fe2+
128
What does the TCA cycle produce?
``` 3 NADH 1 FADH2 2 CO2 1 GTP Per acetyl-CoA = 10 ATP, 2x everything for glucose ```
129
Pompe disease what deficient enzyme? Cfs?
Lysosomal acid alpha-1,4-glucosidase (acid maltase) Cardiomegaly, HOCM, hypotonia, exercise intolerance --> early death
130
Prader-Willi syndrome is a result of what defect? Sx?
Imprinting - paternal gene is deleted Hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia
131
Vit B5 is needed for what? Def. causes what?
Coenzyme A, FA synthesis Dermatitis, enteritis, alopecia, AI
132
What inhibits thymidylate synthase?
5-FU
133
PDH complex requires which 5 cofactors?
``` The Lovely Co-enzymes For Nerds Thiamine Lipoic acid CoA (B5) FAD (B2) NAD+ (B3) ```
134
Edwards syndrome has what CFs?
``` PRINCE Edward Prominent occiput Rocker-bottom feet Intellectual disability Nondisjunction Clenched fists Low-set ears ```
135
Vit B6 is a cofactor for what major reactions? Can cause what conditions?
Transamination (ALT/AST), decarboxylation, glycogen phosphorylase Sideroblastic anemia
136
Where is hexokinase located? Glucokinase? Which is induced by insulin?
Most tissues Liver, B cells of pancreas Glucokinase
137
What inhibits IMP dehydrogenase?
Mycophenolate | Ribavirin
138
What does HSL degrade?
TGs stored in adipocytes
139
What causes a musty body odor? Disorder of what? Inheritance?
PKU Aromatic a.a. Metabolism AR

Board Prep (19 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions