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First Aid > Biochem pathways > Flashcards

Biochem pathways Flashcards

1
Q

ADA deficiency enzyme

A

adenosine deaminase - for degradation of adenosine and deoxyadenosine
- leads to build up of dATP

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2
Q

ADA deficiency clinical

A
  • toxic to lymphocytes

- leads to SCID

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3
Q

Lesch-nyhan enzyme

A
  • absent HGPRT (converts hypoxanthine to IMP and guanine to GMP)
  • excess of uric acid and de novo purine synthesis
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4
Q

Lesch-Nyhan clinical

A

intellectual disability, self-mutilation, aggression, hyperuricemia, orange in diaper, gout, dystonia

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5
Q

Duchenne protein

A

deleted dystrophin (frameshift)

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6
Q

Duchenne clinical

A

weakness in pelvic girdle, pseudohypertrophy of calves, waddling gait, early onset, dilated cardiomyopathy

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7
Q

Becker protein

A

deleted dystrophin (non-frameshift)

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8
Q

Becker clinical

A

same as Duchenne but less severe

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9
Q

myotonic type 1 gene

A

CTG trinucleotide repeat of DMPK gene (myotonin protein kinase)

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10
Q

myotonic type 1 clinical

A

myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia

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11
Q

fragile X gene

A

FMR1 gene (hypermethylation and less expression of X)

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12
Q

fragile X clinical

A

intellectual disability, autism, macroorchidism pot puberty, long face with large jaw, large everted ears, mitral valve prolapse

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13
Q

Edwards gene

A

trisomy 18

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14
Q

Edwards clinical

A

prominent occiput, rocker bottom feet, intellectual disability, nondisjunction, clenched fists, low set ears, micrognathia, congenital heart disease
- low PAPP-A and HCG

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15
Q

Patau gene

A

trisomy 13

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16
Q

Patau clinical

A

intellectual disability, microphthalmia, microcephaly, cleft lip and palate, holoprosencephaly, polydactyly, cutis aplasia, heart disease

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17
Q

cri-du-chat gene

A

microdeletion of short arm of chromosome 5

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18
Q

cri-du-chat clinical

A

microcephaly, moderate to severe intellectual disability, high pitched crying, epicanthal folds VSD

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19
Q

Williams syndrome gene

A

microdeletion of long arm of chromosome 7

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20
Q

Williams clinical

A

elfin facies, intellectual disability, hypercalcemia, well developed verbal skills, extreme friendliness, cardiovascular problems

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21
Q

Hartnup problem

A

deficiency in tryptophan transporter (can’t form niacin)

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22
Q

Hartnup clinical

A

pellagra like symptoms, diarrhea, dementia and dermatitis

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23
Q

G6PD deficiency enzyme

A

glucose 6 phosphate dehydrogenase (converts glucose 6 phosphate to produce NAPDH and glutathione)

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24
Q

G6PD clinical

A
  • X linked recessive
  • Heinz bodies due to precipitated hemoglobin
  • bite cells due to splenic removal of macrophages
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25
Q

essential fructosuria enzyme

A

defect in fructokinase (converts fructuose to fructose 1P)

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26
Q

essential fructosuria clinical

A
  • fructose can not get trapped in cells
  • benign condition
  • fructose appears in blood and urine
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27
Q

fructose intolerance enzyme

A

aldolase B (converts fructose 1-P to DHAP and glyceraldehyde)

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28
Q

fructose intolerance clinical

A
  • fructose 1P accumulates leading to less free phosphate
  • occurs after eating fruit, juice or honey
  • reducing sugar in urine
  • hypoglycemia, jaundice, cirrhosis, vomiting
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29
Q

galactokinase deficiency enzyme

A

galactokinase (converts galactose to galactose 1P)

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30
Q

galactokinase clinical

A
  • mild condition
  • galactose appears in blood and urine
  • infantile cataracts and no social smile
31
Q

classic galactosemia enzyme

A

defect in galactose 1P uridyltransferase (build up of galactose 1P)

32
Q

classic galactosemia clinical

A
  • galactitol builds up in lens of eye

- failure to thrive, jaundice, hepatomegaly, infantile cataracts, intelletual disability, ecoli sepsis

33
Q

lactase deficiency clinical

A
  • stool is lower pH, and breath shows high hydrogen content with lactose hydrogen breath test
  • bloating, cramps, flatulence, osmotic diarrea
34
Q

hyperammonemia defect

A
  • excess of NH3 depletes alpha-ketoglutarate, inhibits TCA cycle
35
Q

hyperammonemia clinical

A

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

36
Q

ornithine transcarbamylase deficiency enzyme

A
  • X linked recessive
  • converts ornithine to citrulline
  • build up of ammonia, carbamoyl phosphate and orotic acid
37
Q

ornithine transcarbamylase deficiency clinical

A
  • increase in orotic acid in blood and urine
  • low BUN
  • symptoms of hyperammonemia
  • no megaloblastic anemia (seen in orotic aciduria)
38
Q

arsenate enzyme

A

inhibits lipoic acid (blocking pyruvate dehydrogenase)

39
Q

arsenate clinical

A

vomiting, rice-water stools, garlic breath, QT prolongation

40
Q

pyruvate dehydrogenase deficiency enzyme

A

build up of pyruvate leads to increase in lactate and alanine

41
Q

pyruvate dehydrogenase deficiency clinical

A
  • neurologic defects, lactic acidosis, increase in alanine

- treat with lysine and leucine (ketogenic amino acids)

42
Q

phenylketonuria enzyme

A
  • due to lack of phenylalanine hydroxylase or lack of tetrahydrobiopterin (BH4)
  • leads to build up of phenylalanine and phenyl ketones in urine
  • requires tyrosine (later step)
43
Q

phenylketonuria clinical

A
  • intellectual disability, growth retardation, seizures, fair skin, eczema, musty body odor
  • aromatic AA disorder leads to musty odor
  • avoid aspartame
44
Q

maple syrup urine disease enzyme

A
  • blocked degradation of branched amino acids (isoleucine, leucine and valine)
  • less branched chain alpha ketoacid dehydrogenase (B1)
  • increased ketoacids in blood
45
Q

maple syrup urine disease clinical

A
  • vomiting, poor feeding, urine smells like maple syrup or burnt sugar
  • severe CNS defects, intellectual disability
  • treat with ILV restriction and thiamine supplementation
46
Q

alkaptonuria enzyme

A
  • deficiency of homogentisate oxidase
  • used in tyrosine degradation pathway (homogentisic acid goes to fumarate to TCA)
  • build of of homogentisic acid
47
Q

alkaptonuria clinical

A
  • blue/black connective tissue, ear cartilage and sclera, urine turns black in air, debilitating arthralgias
48
Q

homocystinuria enzyme

A
  • cystathionine synthase deficiency (treat with less methionine, more cystine, B6, B12 and folate
  • less affinity for cystathionine synthase for B6 (treat with B6 and cysteine)
  • methionine synthase deficiency (give methionine)
  • bottom line is an excess in hmocysteine
49
Q

homocystinuria clinical

A
  • osteoporosis, marfanoid, ocular changes, CV effects, stroke/MI, kyphosis, intellectual disabilities
50
Q

cystinuria enzyme

A
  • defect in transporter in kidney and gut that prevent reabsorption of cystine, ornithine, lysine and arginine (COLA)
51
Q

cystinuria clinical

A
  • cystine crystals in kidney

- treat with urine alkalinization and chelating agents

52
Q

Von Gierke disease enzyme

A
  • type 1 defect in glucose-6-phosphatase (converts G6P to glucose)
  • impaired gluconeogenesis and glycogenolysis
53
Q

Von Gierke disease clinical

A
  • increase in glycogen, high blood lactate, high triglycerides, high uric acid and hepatomegaly (glucose can’t be freed)
  • avoid fructose and galactose, treat with glucose
54
Q

Pompe disease

A
  • type 2 defect in lysosomal acid alpha 1-4 glucosiadase with alpha 1-6 glucosidase activity (acid maltase)
  • can’t free glucose from small pieces of glycogen
55
Q

Pompe disease clinical

A
  • pompe trashes the pump

- cardiomegaly, hypertrophic cardiomyopathy, hypotonia, exercise intolerance, early death

56
Q

Cori disease enzyme

A
  • debranching enzyme

- cant free branched glucose from glycogen

57
Q

Cori disease clinical

A
  • gluconeogenesis is intact

- mild form of Von Gierke’s (normal blood lactate)

58
Q

McCardle disease enzyme

A
  • skeletal muscle glycogen phosphorylase

- muscles can’t use glycogen

59
Q

McCardle disease clinical

A
  • high glycogen in muscle, painful muscle cramps, myoglobinuria with exercise, arrhythmia form electrolyte abnormalities
  • blood glucose is unaffected (only muscles)
60
Q

carnitine deficiency enzyme

A
  • carnitine transport of LCFA into mitochondria
61
Q

carnitine deficiency clinical

A
  • weakness, hypotonia and hypoketotic hypoglycemia
62
Q

medium chain acyl-CoA dehydrogenase enzyme

A
  • can’t break down medium chain FAs

- accumulation of fatty acyl carnitines in blood with hypoketotic hypoglycemia

63
Q

medium chain acyl-CoA dehydrogenase clincial

A
  • vomiting, lethargy, seizures, coma, liver problems
  • can lead to sudden death in infants
  • avoid fasting
64
Q

abetalipoproteinemia enzyme

A
  • deficiency in ApoB48 and ApoB100

- lack of chylomicrons, VLDL and LDL

65
Q

abetalipoproteinemia clincal

A
  • severe fat malabsorption, steatorrhea, failure to thrive

- later retinitis pigmentosa, spinocerebellar degeneration due to vitamin E, progressive ataxia, acanthocytosis

66
Q

type 1 hypercholesterolemia enzyme

A
  • lipoprotein lipase of apolipoprotein C-II deficiency

- increase in chylomicrons, TG, cholesterol in blood

67
Q

type 1 hypercholesterolemia clinical

A
  • eruptive/pruritic xanthomas
  • pancreatitis, hepatosplenomegaly
  • no risk for atherosclerosis
  • cream layer in supernatant
68
Q

type 2 familial hypercholesterolemia enzyme

A

no LDL receptors

- build up of LDL and cholesterol

69
Q

type 2 familial hypercholesterolemia clinical

A
  • tendon xanthomas

- accelerated atherosclerosis and corneal arcus

70
Q

type 3 dysbetalipoproteinemia enzyme

A
  • defective ApoE

- increase in chylomicrons and VLDL

71
Q

type 3 dysbetalipoproteinemia clinical

A
  • tuberoeruptive xanthomas and xanthoma striatum palmare

- premature atherosclerosis

72
Q

type 4 hypertriglyceridemia enzyme

A
  • hepatic overproduction of VLDL

- increase in VLDL and TG in blood

73
Q

type 4 hypertriglyceridemia clinical

A
  • hypertriglyceridemia can cause acute pancreatitis

First Aid (16 decks)

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