Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Step Random Tidbits > First Aid 78-101 > Flashcards

First Aid 78-101 Flashcards

1
Q

Cheilosis
Corneal vascularization
Vitamin deficiency?

A

Riboflavin - B2

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

Function of ribovflavin

A

component of flavins FAD and FMN
used as cofactors in redox reactions
Uses 2 ATP

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

Synthesis of Niacin requires what other vitamins?

A

B2 and B6

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

Glossitis

what vitamin deficiency?

A

Niacin - B3

Isoniazid therapy can also cause both B6 and B3 deficiency

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

How does malignant carcinoid syndrome cause niacin deficiency?

A

Increase in tryptophan metabolism

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

Hyperpigmentation of sun-exposed limbs;

Dermatitis of C3-C4 - “broad collar” rash

A

Niacin deficiency

3D’s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

How to prevent facial flushing from taking excess niacin?

A

Take aspirin with the niacin to prevent the prostaglandin reaction

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

What vitamin is an essential component of CoA and fatty acid synthase?

A

B5 - pantothenic acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q 
Dermatitis
Alopecia
Enteritis
Adrenal insufficiency
What vitamin deficiency?
A

Pantothenic acid - B5

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

A vitamin that is converted to PLP and used as a cofactor in:
transamination
decarboxylation
glycogen phosphorylase
synthesis of: cystathione, heme, niacin, histamine, serotonon, GABA, norepinephrine, dopamine, epinephrine

A

Pyridoxine - B6
**cofactor for homocysteine –> cysteine (from protein catabolism) and
succinyl CoA –> heme (from FA catabolism)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Rare vitamin deficiency due to antibiotic use or excessive ingestion of raw egg whites (avidin in eggs)

A

Vitamin B7 - biotin

used in adding 1 carbon group rxns:
pyruvate –> oxaloacetate (3-4)
Acetyl CoA –> malonyl CoA (2-3)
Propionyl CoA –> methylmalonyl CoA (3-4)

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

Vitamin important for DNA and RNA bases reaction

A

Vitamin B9 - folate
Absorbed in the jejunum
Small reserve in liver
Converted to THF

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

Phenytoin, Methotrexate, Sulfonamides, can all cause what vitamin deficiency?

A

Folate - B9
hypersegmented neutrophils, glossitis, macrocytic, megaloblastic anemia
most common vitamin deficiency in the US

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

Cofactor for methionine synthesis and methylmalonyl-CoA mutase

A

B12 cobalamin

large pool stored in the liver

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

Anti-intrinsic factor antibodies

A

pernicious anemia

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

increases in homocysteine deplete…

A

vitamins B12 and B9

homocystein –> methionine - methionine synthase is enzyme that simultaneously with B12 also turns THF-CH3 –> THF

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

What neurological symptoms are found in B12 deficiency?

A

Degeneration of dorsal columns, lateral corticospinal tracts, spinal cerebellar tracts due to abnormal myelin
If prolonged, deficiency in irreversible

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

Increased levels of homocysteine increase the risk for

A

cardiovascular events, via endothelial damage

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

Build up of what compound, in the absence of B12, is neurotoxic, and causes lethargy, hypotonia, seizures and parasthesias?

A

Methylmalonyl-CoA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Vitamin necessary for dopamine beta-hydroxylase

A

Vitamin C

converts dopamine –> NE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Vitamin C is an ancillary treatment for

A

methemoglobinemia

Reduces Fe3+ to Fe2+

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

Hemarthrosis
Corkscrew hair
Weakened immune response
what vitamin deficiency?

A

Vitamin C

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

Excess vitamin C, give 3 things.

A

Calcium oxalate kidney stones
can increase risk of iron toxicity in people with excess iron;
nausea, vomiting, fatigue, diarrhea

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

What are the effects of vitamin D on bone at low and high levels?

A

Low vitamin D –> increases bone mineralization

High vitamin D –> increases bone resorption

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Ergocalciferol

A

D2

plants

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Cholecalciferol

A

D3

milk, made in sun-exposed skin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Why would vitamin D deficiency cause hypocalcemic tetany?

A

Low calcium (and phosphate) absorption from the intestine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Breastfed infants should receive oral

A

Vitamin D

risk factors are hyperpigmentation, low sun exposure, prematurity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Vitamin D excess can be seen in what disease?

A

Granulomatous diseases –> activation of vitamin D by epithelioid macrophages

Excess - hypercalcemia, hypercalciuria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Vitamin E deficiency looks similar to B12 deficiency except:

A

no megaloblastic anemia, no hypersegmented neutrophils, no increased serum methylmalonic acid

deficiency E - hemolytic anemia, acanthocytosis, muscle weakness, posterior column (loss of proprioception and vibratory sense) and spinocerebellar tract demyelination (ataxia)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Tocopherol

Tocotrienol

A

other names for vitamin E

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Phytomenadione
Phylloquinone
Phytonadiona

A

other names for vitamin K

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Vitamin K is needed for the ________ which matures clotting factors II, VII, IX, X, C and S

A

gamma-carboxylation of glutamic acid residues

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Prolonged use of antibiotics can cause what deficiency?

A

Vitamin K

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Neonatal hemorrhage due to K deficiency will show what bleeding studies

A

increased PT, aPTT

normal bleeding time

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q 
Delayed wound healing
Hypogonadism
Decreased adult hair
Dysgeusia
Anosmia
Acrodermatitis Enteropathica
what vitamin deficiency?
A

Zinc

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Fatty change in the liver can be caused by what deficiency

A

Protein
Kwashiorkor
Malnutrition - edema - anemia - fatty liver

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Marasmus results in

A

muscle wasting
total calorie intake down
emaciation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Antidote for methanol or ethylene glycol poisoning, what is it and what does it do?

A

Fomepizole
inhibits alcohol dehydrogenase
(etOH–> acetaldehyde)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What is the limiting reagent for ethanol metabolism, both steps:

  1. ethanol –> acetaldehyde (cytosol)
  2. acetaldehyde –> acetate (mitochondria)
A

NAD+

  • *by using up NAD+ in the liver:
    1. pyruvate –> lactate to regenerate NAD+ –> lactic acidosis
    2. oxaloacetate –> malate to regenerate NAD+ –> prevents gluconeogenesis –> fasting hypoglycemia
    3. dihydroxyacetone phosphate –> glycerol-3-phosphate –> FA made –> hepatosteatosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Where does heme synthesis take place?

A

Both cytoplasm and mitochondria
(same with urea cycle and gluconeogenesis)
HUGs take 2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Rate limiting enzyme in glycolysis, what is it and what is the step?

A

Phosphofructokinase (PFK-1)
cat Fructose-6-P –> Fructose-1,6-P

heavily regulated - ATP and citrate inhibit PFK-1;
Fructose-2,6-phosphate and AMP induce PFK-1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Rate limiting enzyme in gluconeogenesis?

A

Fructose-1,6-bisphosphatase
cat backward step from glycolysis: Fructose-1,6-P –> Fructose-6-P

inhibited by AMP and Fructose-2,6-P

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Rate limiting step and enzyme in TCA

A

isocitrate dehydrogenase
cat isocitrate –> alpha-ketoglutarate
ATP and NADH inhibit

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Insulin and thyroxine stimulate what enzyme?

A

HMG-CoA reductase

rate limiting and first step in cholesterol synthesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

NADPH is mainly made via

A

HMP shunt

NADPH is the major reducing equivalent in the cytosol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

G6PD is the rate limiting enzyme of

A

the HMP shunt
glucose-6-P can either go to gycolysis (fwd), glucose (backward, gluconeogenesis), or sideways to 6-phosphogluconolactone (HMP shunt)
it can also go left to glycogenesis, for which glycogen synthase is the rate-limiting enzyme

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Gene associated with maturity-onset diabetes of the young

A 
Glucokinase
liver and beta cells of pancreas
cat glucose to glucose-6-P
induced by insulin
no feedback inhibition by glucose-6-phosphate
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Garlic breath
vomiting
rice-water stools
inhibition of:

A

lipoic acid by arsenic

mitochondrial enzyme complex = pyruvate dehydrogenase complex - TLCFN cofactors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

TLCFN cofactors

A 
TPP (thiamine B1)
Lipoic Acid
CoA (pantothenic acid B5)
FAD (riboflavin B2)
NAD (niacin B3)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Purely ketogenic amino acids

A

Lysine
Leucine
diets high in these aa’s needed to treat pyruvate dehydrogenase deficiency (X-linked)

52
Q

Rotenone inhibits

A

ETC complex I

53
Q

Antimycin A inhibits

A

ETC complex III

54
Q

Cyanide, CO, inhibit

A

ETC complex IV

55
Q

Oligomycin inhibits

A

ETC complex V

directly inhibits mitochondrial ATP synthase –> increase in proton gradient

56
Q

Uncoupling agents - ATP synthesis stops, ETC continues - heat produced, permeability of membrane increased:

A

2,4-dinitrophenol
aspirin (fevers if OD)
thermogenin in brown fat

57
Q

Which FA chains can make glucose and why?

A

Odd chain only, bc can enter Krebs as succinyl-CoA –> oxaloacetate

58
Q

Pathogenesis of G6PD deficiency

A

Low G6PD –> low NAPDH –> RBC has no NADPH for detoxification –> infection, drugs, fava beans make free radicals that diffuse into RBCs and damage them –> Hgb denatured –> Heinz bodies/hemolytic anemia

59
Q

Drugs to be avoided in G6PD

A

Sulfonamides
Isoniazid
Primaquine

60
Q

Fructokinase deficiency

A

benign
AR
cat fructose –> fructose-1-P
causes fructosuria

61
Q

Aldolase B deficiency

A

fructose intolerance
AR
fructose-1-P build up, uses up phosphates, inhibits glycogenolysis AND gluconeogenesis
hypoglycemia, cirrhosis, vomiting, jaundice

62
Q

Tx of fructose intolerance

A

limit intake of fructose and sucrose

63
Q

Infant fails to track objects or develop a social smile

AR

A

galactokinase deficiency

only issue if galactose in diet –> build up of galactitol can cause cataracts

64
Q

Fructose is to Aldolase B as Galactose is to

A

Uridyltransferase

classic galactosemia - failure to thrive, jaundice, intellectual disability, hepatomegaly, infantile cataracts, E. Coli sepsis risk

Tx: exclude galactose and lactose from diet

65
Q

Schwann cells, retina and kidneys have only aldose reductase, for enzymes involving sorbitol. What does this mean?

A

Can make glucose –> Sorbitol but not sorbitol –> fructose

Build up of sorbitol –> osmotic damage –> cataracts, retinopathy, neuropathy seen in hyperglycemia in diabetes

66
Q

Arginase
location
fx
deficiency results in

A

location - urea cycle - cytoplasm of liver
fx - cat arginine –> ornithine (urea cycle) and urea

spastic diplegia, progressive, growth delay, abnormal movements

tx with low protein diet

67
Q

How is ammonia transported?

A

Amino acids, glutamate and alanine

68
Q

hyperammonemia depletes alpha-ketoglutarate (involved in alanine-glutamate transfer of NH3), resulting in what?

A

low TCA cycle
somnolence, asterixis tremor, cerebral edema
from urea cycle deficiencies or liver disease

tx w/ low protein diet

69
Q

MOA Benzoate, phenylacetate, phenylbutyrate

A

bind NH4+ leading to excretion

tx of hyperammonemia

70
Q

MOA rifaximin

A

reduce colonic ammoniagenic bacteria

tx of hyperammonemina

71
Q

MOA Lactulose

A

acidifies GI tract to trap NH4+ for excretion

tx of hyperammonemia

72
Q

N-acetyglutamate synthase deficiency (urea cycle) presents in infants with intellectual disability, developmental delay, poorly regulated body temperature and respiration, poor feeding, and results from hyperammonemia. What other enzyme deficiency, also involved in the urea cycle, presents this way?

A

Carbamoyl phosphate synthetase I deficiency

Both AR

73
Q

Most common urea cycle disorder

A 
Ornithine transcarbamylase deficiency
X-linked recessive
orotic acid in urine and blood
BUN down
symptoms of hyperammonemia
**NO megaloblastic anemia (distinguish from orotic acid uria)
74
Q

Derivatives of Phenylalanine

A

–(Bh4)–> Tyrosine –(BH4) –> Dopa –(B6)–> Dopamine –>(vit C)–> NE –(SAM)–> Epi

Tyrosine –> Thyroxine
Dopa –> Melanin

75
Q

Derivatives of Tryptophan

A

(via niacin, B2, B6) - NAD+, NADPH

(via serotonin, BH4, B6) - Melanin

76
Q

Derivative of Histidine

A

Histamine (B6)

77
Q

Derivative of Glycine

A

(via porphyrin, B6) - Heme

78
Q

Derivatives of Glutamate

A

GABA (B6)

Glutathione

79
Q

Derivatives of Arginine

A

Creatine
Urea
NO (BH4)

80
Q

The deficiency in PKU is Phenylalanine hydroxylase. What step?

A

Phenylalanine –(BH4)–> Tyrosine

Small percentage of PKU from deficiency in Dihydropterodine reductase which recycles BH2–> BH4 = “malignant PKU”

81
Q

Pallor of substantia nigra, locus ceruleus and vagal nucleus dorsalis seen in what enzyme deficiency?

A

PKU;
low dopamine –> low NE, serotonin, epi;
progressive neurological deterioration

82
Q

AR
Musty body odor
hypopigmentation of hair, skin, eyes

A

PKU;
Tyrosine becomes essential;
Avoid anything containing phenylalanine (ie artificial sweeteners);
Phenylketones in urine - phenylacetate, phenyllactate, phenylpyruvate (also in blood, contributes to neurological symptoms)

83
Q

Treat what disorder with restriction of isoleucine, leucine, valine restriction, and thiamine supplementation, and why?

A

Maple Syrup Urine disease;
deficiency in branched-chain alpha-ketoacid;
dehydrogenase (requires B1);
needed to degrade proteins to enter TCA cycle;
severe CNS defects and intellectual disability;
AR

84
Q

AR

Bluish black connective tissue and sclerae (ochronosis)

A

Alkaptonuria
(remember osteogenesis imperfecta is most commonly AD);
urine turns black on prolonged exposure to air;
homogentisic acid toxic to cartilage;
Usually benign

85
Q

Step inhibited in Alkaptonuria

A

Tyrosine –> Homogentisic acid –(homogentisate oxidase)–> maleylacetoacetic acid –> fumarate –> TCA

Enzyme defective in tyrosine catabolism pathway

86
Q 
AR
lens subloxation
marfanoid habitus
intellectual disability
osteoporosis
thombosis
atherosclerosis
A

Homocystinuria

87
Q

Cystathionine synthase deficiency OR methionine synthase deficiency result in homocystinuria. High amounts of homocystine are found in the urine. What is the pathway?

A

Methionine cystathionine –> cysteine

Treat CSD version by reducing methionine in diet (to push rxn that way), increase cysteine and B12 and folate

Treat MSD version by increasing methionine in diet

88
Q

Hereditary (AR) defect in PCT;
Precipitation of hexagonal cystine stones;
Defect name and situation

A

Prevents reabsorption of COLA: Cystine, Ornithine, Lysine, Arginine in PCT AND intestine;
Cystine forms from 2 cysteines (disulfide bond) –> precipitates;
Urinary cyanide-nitroprusside test to diagnose;
Treat with urinary alkanization is acetozolamide, potassium citrate, and chelating agents - ie penicillamine - to increase stone solubility, plus good hydration

89
Q

Albinism is a deficiency of tyrosinase. What pathway and step?

A

DOPA –> Melanine in the catecholamine synthesis pathway

90
Q

Glycogen branches have what bonds?

A

alpha (1,6)

91
Q

Glycogen linkages have what bonds?

A

alpha (1,4)

92
Q

What stain identifies glycogen and is useful for diagnosing glycogen storage diseases?

A

PAS

93
Q

Why are beta blockers not administered during decompensated HF?

A

The heart is dependent on sympathetic input in this state

94
Q

What diuretic class is associated with ototoxicity?

A

Loop diuretics ie furosemide, torsemide, bumetanide

especially when combined with other potentially ototoxic drugs: aminoglycosides, salicylates, cisplatin

95
Q

TATA (aka Hogness) box

CAAT box

A

Eukaryotic promoter regions
TATA box 0 25 bp upstream;
CAAT box 70-80 bp upstream

96
Q

Enhancers bind activator sequences that have what effect:

A

Bend DNA –> activator proteins can then access TFs and RNA Pol II at promoter site –> increases RATE of transcription

97
Q

Classic galactosemia is caused by

A

impaired metabolism of glacatose-1-P (to UDP galactose via galactose-1-P uridyl transferase);

vomiting, lethargy, failure to thrive soon after birth

98
Q

Deficiency in glucose-6-phosphatase

A

can’t make glucose from glycogenolysis;
Von Gierke disease (type I);
glycogen build up in liver –> hepatomegaly;
high uric acid, triglycerides, blood lactate;
severe fasting hypoglycemia
AR

99
Q

What is the tx for Von Gierke disease?

A

frequent oral glucose/cornstarch to prevent severe fasting hypoglycemia
avoid fructose and galactose

100
Q

Explain “Pome trashes the pump”

A

Pompe disease;
AR;
cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance, hepatomegaly, early death
Can’t debranch glycogen - deficiency alpha-1,6-glucosidase AND deficiency lysosomal alpha-1,4-glucosidase (aka acid maltase)

101
Q

Cori disease (III) is a milder form of Von Gierke disease. What is the deficient enzyme?

A

Debranching enzyme - alpha-1,6-glucosidase;
gluconeogenesis OK;
Normal blood lactate levels

102
Q

Explain McCardle = Muscle

A

McArdle disease - type V glycogen storage disease
Enzyme: skeletal muscle glycogen phosphorylase (Myophosphorylase);
Increased glycogen in muscle, can’t break it down –> muscle cramps, myoglobinuria, (red urine) with strenuous exercise;
AR

103
Q

What is a cardiac complication of McArdle disease?

A

Arrhythmia - electrolyte abnormalities

104
Q 
Fabry
Gaucher
Niemann-Pick
Tay-Sachs
Krabbe
Metachromatic leukodystrophy
Hurler
Hunter
all?
A

Lysosomal storage diseases;

Hurler and Hunter are mucopolysaccharidoses

105
Q

GM2 –(Hexosaminidase A)–> GM3 –> Glucocerebroside

Ceramide trihexoside –(alpha-galactosidase A)–> Glucocerebroside;

Glucocerebroside –(Glucocerebrosidase aka beta-glucosidase)–> Ceramide

Sulfatides –(Arylsulfatase A)–> Galactocerebroside –(Galactocerebrosidase)–> Ceramide

Sphingomyelin –(Sphingomyelinase)–> Ceramide

A

Lysosomal storage pathway

106
Q

GM2 –(Hexosaminidase A)–> GM3 –> Glucocerebroside

What disease when enzyme deficient?

A

Tay-Sachs (AR)

107
Q

Accumulation of GM2 ganglioside results in what clinical picture?

A

Cherry-red spot on macula;
Lysosomes with onion skin;
Progressive neurodegeneration;
Developmental delay;

“Tay SaX lacks HeXosaminidase”

108
Q

Ceramide trihexoside –(alpha-galactosidase A)–> Glucocerebroside;
What disease when enzyme deficient?

A

Fabry disease
only lysosomal storage disease with X-linked inheritance;
Accumulate ceramide trihexoside (Gb3)

109
Q

Triad of episodic peripheral neuropathy (TIA, stroke possible), angiokeratomas (rash), hypohidrosis (not sweating)
What disease?
What later complications?

A

Fabry disease;
Progressive renal failure;
LV hypertrophy –> CV disease

Ceramide trihexoside –(alpha-galactosidase A)–> Glucocerebroside

110
Q

Sulfatides –(Arylsulfatase A)–> Galactocerebroside

What disease when deficient?

A

Metachromatic leukodystrophy (AR);
Accumulation of cerebroside sulfate;
Central and peripheral demyelination with ataxia, dementia

111
Q

Galactocerebroside –(Galactocerebrosidase)–> Ceramide

What disease when deficient?

A 
Krabbe disease (AR)
Accumulation of galactocerebroside and psychosine
112
Q

Peripheral neuropathy
Developmental delay
Optic atrophy
Globoid cells

A

Krabbe disease

Galactocerebroside –(Galactocerebrosidase)–> Ceramide

113
Q

If given Ashkenazi Jewish AR disease, what three should you consider?

A

Tay-Sachs;
Niemann-Pick
Gaucher

114
Q

Glucocerebroside –(Glucocerebrosidase aka beta-glucosidase)–> Ceramide
What disease when deficient?

A 
Gaucher disease (AR)
**most common**
115
Q

Histology of lipid-laden macrophages resembling crumpled tissue paper

A

Gaucher disease
deficiency in glucocerebrosidase
“Gaucher cells”

116
Q

Massive splenomegaly from pancytopenia;
Hepatomegaly;
Osteoporosis;
Aseptic necrosis of femur and bone crises

A

Gaucher disease

deficiency in glucocerebrosidase

117
Q

Sphingomyelin –(Sphingomyelinase)–> Ceramide

What symptoms when deficient?

A

Niemann-Pick disease;
Progressive neurodegeneration;
hepatosplenomegaly, foam cells, cherry-red spot on macula

118
Q

Cherry red spot on macula WITH hepatomegaly

A

Niemann-Pick - deficiency sphingomyelinase

WITHOUT hepatomegaly - Tay-Sachs - deficiency of hexosaminidase A

119
Q

The mucopolysaccharidoses are comprised of Hurler and Hunter syndromes. Both result in accumulation of heparan sulfate and dermatan sulfate. Which is XR and which is AR?

A

Hunter - XR - Mild hurler with aggressive behavior and NO corneal clouding

Hurler - AR - developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

120
Q

alpha-L-iduronidase deficiency

A

Hurler - AR - developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

121
Q

Iduronate sulfatase deficiency

A

Hunter - XR - Mild hurler with aggressive behavior and NO corneal clouding

122
Q

Carnitine-dependent transport into the mito matrix required for

A

long chain fatty acid degradation
CARnitine = carnage of FA
carnitine shuttle

123
Q

Fatty acid synthesis requires

A

citrate from mito –> cytosol

citrate shuttle

124
Q

Hypoketotic hypoglycemia with weakness and hypotonia suggests a toxic accumulation of fatty acids in the mitochondria. What deficiency?

A

Systemic primary carnitine deficiency;

cannot shuttle long chain FA out of mito for degradation

125
Q

Avoid fasting in medium-chain acyl-CoA dehydrogenase deficiency bc

A

cannot breakdown FA to ketone bodies or to enter TCA

126
Q

Acetone
Acetoacetate
beta-hydroxybutyrate

A

Ketone bodies

127
Q

Urine test for ketone bodies can only detect

A

acetoacetate

Step Random Tidbits (15 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions