First Aid > Biochem pathways > Flashcards

Biochem pathways Flashcards

(73 cards)

Study These Flashcards
1
Q

ADA deficiency enzyme

A

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

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

ADA deficiency clinical

A
  • toxic to lymphocytes

- leads to SCID

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

Lesch-Nyhan clinical

A

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

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

Duchenne protein

A

deleted dystrophin (frameshift)

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

Duchenne clinical

A

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

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

Becker protein

A

deleted dystrophin (non-frameshift)

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

Becker clinical

A

same as Duchenne but less severe

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

myotonic type 1 gene

A

CTG trinucleotide repeat of DMPK gene (myotonin protein kinase)

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

myotonic type 1 clinical

A

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

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

fragile X gene

A

FMR1 gene (hypermethylation and less expression of X)

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

fragile X clinical

A

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

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

Edwards gene

A

trisomy 18

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

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

Patau gene

A

trisomy 13

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

Patau clinical

A

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

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

cri-du-chat gene

A

microdeletion of short arm of chromosome 5

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

cri-du-chat clinical

A

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

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

Williams syndrome gene

A

microdeletion of long arm of chromosome 7

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

Williams clinical

A

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

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

Hartnup problem

A

deficiency in tryptophan transporter (can’t form niacin)

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

Hartnup clinical

A

pellagra like symptoms, diarrhea, dementia and dermatitis

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

G6PD deficiency enzyme

A

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

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

G6PD clinical

A
  • X linked recessive
  • Heinz bodies due to precipitated hemoglobin
  • bite cells due to splenic removal of macrophages
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
essential fructosuria enzyme
defect in fructokinase (converts fructuose to fructose 1P)
26
essential fructosuria clinical
- fructose can not get trapped in cells - benign condition - fructose appears in blood and urine
27
fructose intolerance enzyme
aldolase B (converts fructose 1-P to DHAP and glyceraldehyde)
28
fructose intolerance clinical
- fructose 1P accumulates leading to less free phosphate - occurs after eating fruit, juice or honey - reducing sugar in urine - hypoglycemia, jaundice, cirrhosis, vomiting
29
galactokinase deficiency enzyme
galactokinase (converts galactose to galactose 1P)
30
galactokinase clinical
- mild condition - galactose appears in blood and urine - infantile cataracts and no social smile
31
classic galactosemia enzyme
defect in galactose 1P uridyltransferase (build up of galactose 1P)
32
classic galactosemia clinical
- galactitol builds up in lens of eye | - failure to thrive, jaundice, hepatomegaly, infantile cataracts, intelletual disability, ecoli sepsis
33
lactase deficiency clinical
- stool is lower pH, and breath shows high hydrogen content with lactose hydrogen breath test - bloating, cramps, flatulence, osmotic diarrea
34
hyperammonemia defect
- excess of NH3 depletes alpha-ketoglutarate, inhibits TCA cycle
35
hyperammonemia clinical
tremor (asterixis), slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision
36
ornithine transcarbamylase deficiency enzyme
- X linked recessive - converts ornithine to citrulline - build up of ammonia, carbamoyl phosphate and orotic acid
37
ornithine transcarbamylase deficiency clinical
- increase in orotic acid in blood and urine - low BUN - symptoms of hyperammonemia - no megaloblastic anemia (seen in orotic aciduria)
38
arsenate enzyme
inhibits lipoic acid (blocking pyruvate dehydrogenase)
39
arsenate clinical
vomiting, rice-water stools, garlic breath, QT prolongation
40
pyruvate dehydrogenase deficiency enzyme
build up of pyruvate leads to increase in lactate and alanine
41
pyruvate dehydrogenase deficiency clinical
- neurologic defects, lactic acidosis, increase in alanine | - treat with lysine and leucine (ketogenic amino acids)
42
phenylketonuria enzyme
- 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
phenylketonuria clinical
- intellectual disability, growth retardation, seizures, fair skin, eczema, musty body odor - aromatic AA disorder leads to musty odor - avoid aspartame
44
maple syrup urine disease enzyme
- blocked degradation of branched amino acids (isoleucine, leucine and valine) - less branched chain alpha ketoacid dehydrogenase (B1) - increased ketoacids in blood
45
maple syrup urine disease clinical
- vomiting, poor feeding, urine smells like maple syrup or burnt sugar - severe CNS defects, intellectual disability - treat with ILV restriction and thiamine supplementation
46
alkaptonuria enzyme
- deficiency of homogentisate oxidase - used in tyrosine degradation pathway (homogentisic acid goes to fumarate to TCA) - build of of homogentisic acid
47
alkaptonuria clinical
- blue/black connective tissue, ear cartilage and sclera, urine turns black in air, debilitating arthralgias
48
homocystinuria enzyme
- 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
homocystinuria clinical
- osteoporosis, marfanoid, ocular changes, CV effects, stroke/MI, kyphosis, intellectual disabilities
50
cystinuria enzyme
- defect in transporter in kidney and gut that prevent reabsorption of cystine, ornithine, lysine and arginine (COLA)
51
cystinuria clinical
- cystine crystals in kidney | - treat with urine alkalinization and chelating agents
52
Von Gierke disease enzyme
- type 1 defect in glucose-6-phosphatase (converts G6P to glucose) - impaired gluconeogenesis and glycogenolysis
53
Von Gierke disease clinical
- 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
Pompe disease
- 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
Pompe disease clinical
- pompe trashes the pump | - cardiomegaly, hypertrophic cardiomyopathy, hypotonia, exercise intolerance, early death
56
Cori disease enzyme
- debranching enzyme | - cant free branched glucose from glycogen
57
Cori disease clinical
- gluconeogenesis is intact | - mild form of Von Gierke's (normal blood lactate)
58
McCardle disease enzyme
- skeletal muscle glycogen phosphorylase | - muscles can't use glycogen
59
McCardle disease clinical
- high glycogen in muscle, painful muscle cramps, myoglobinuria with exercise, arrhythmia form electrolyte abnormalities - blood glucose is unaffected (only muscles)
60
carnitine deficiency enzyme
- carnitine transport of LCFA into mitochondria
61
carnitine deficiency clinical
- weakness, hypotonia and hypoketotic hypoglycemia
62
medium chain acyl-CoA dehydrogenase enzyme
- can't break down medium chain FAs | - accumulation of fatty acyl carnitines in blood with hypoketotic hypoglycemia
63
medium chain acyl-CoA dehydrogenase clincial
- vomiting, lethargy, seizures, coma, liver problems - can lead to sudden death in infants - avoid fasting
64
abetalipoproteinemia enzyme
- deficiency in ApoB48 and ApoB100 | - lack of chylomicrons, VLDL and LDL
65
abetalipoproteinemia clincal
- severe fat malabsorption, steatorrhea, failure to thrive | - later retinitis pigmentosa, spinocerebellar degeneration due to vitamin E, progressive ataxia, acanthocytosis
66
type 1 hypercholesterolemia enzyme
- lipoprotein lipase of apolipoprotein C-II deficiency | - increase in chylomicrons, TG, cholesterol in blood
67
type 1 hypercholesterolemia clinical
- eruptive/pruritic xanthomas - pancreatitis, hepatosplenomegaly - no risk for atherosclerosis - cream layer in supernatant
68
type 2 familial hypercholesterolemia enzyme
no LDL receptors | - build up of LDL and cholesterol
69
type 2 familial hypercholesterolemia clinical
- tendon xanthomas | - accelerated atherosclerosis and corneal arcus
70
type 3 dysbetalipoproteinemia enzyme
- defective ApoE | - increase in chylomicrons and VLDL
71
type 3 dysbetalipoproteinemia clinical
- tuberoeruptive xanthomas and xanthoma striatum palmare | - premature atherosclerosis
72
type 4 hypertriglyceridemia enzyme
- hepatic overproduction of VLDL | - increase in VLDL and TG in blood
73
type 4 hypertriglyceridemia clinical
- hypertriglyceridemia can cause acute pancreatitis
First Aid
flashcards
Decks in class (16)
# Cards
Brainscape helps you reach your goals faster, through stronger study habits.
© 2026 Bold Learning Solutions. Terms and Conditions