Inborn Error Flashcards

You may prefer our related Brainscape-certified flashcards:
1
Q

Phenylalanine is …AA but tyrosine is….AA

A

Essential
Non essential

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

Phenylalanine converted to tyrosine by …. Enzyme Need …….

A

Phenylalanine hydroxylase
Tetrahydrobiopterin

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

Dihydrobiopterin converts to tetrahydrobiopterin by ….. Enzyme and need ….

A

Dihydrobiopterin reductase
NADPH+H

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

Phenylketonuria is caused by….

A

Deficiency in
Phenylalanine hydroxylase
dihydrobiopterin reductase
Dihydrobiopterin biosynthesis

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

Tyrosine used in …..

A

Protein synthesis
Melanin formation
Catecholamine synthases
Fumarate , acetoacetate

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

Cause of mental retardation in patient with phenylketonuria

A

⏬ catecholamine synthases in brain
⏫ Toxic metabolites to brain function like phenylpyrovate ,phenylacetate ,
phenyllactate

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

Depigmentation caused by ….. In phenylketonuria

A

⏬tyrosine synthesis
⏬Melanine formation from tyrosine

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

Musty urea cause by ……in phenylketonuria

A

⏫toxic metabolites like phenylpyrovate ,phenylacetate ,
phenyllactate

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

Treatment of phenylketonuria

A

⏬ phenylalanine in diet “milk free pA”
⏫ tyrosine in diet
⏫DOPA and seritonin in DHB deficiency

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

steps Branched AA to degradated

A

Transamination
Oxiditive decarboxylation
Dehydrogenation

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

Leucine give … metabolites

A

Acetoacetate+acetylcoA

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

Valine give …… Metabolites

A

Propionyl coA
Scuccinyl coA

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

Isoleucine give … Metabolites

A

Propionyl coA
Scuccinyl coA
AcetylcoA

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

Malple syrup urine disease caused by …lead to accumulation of ….

A

Deficency of dehydrogenase complex “oxcidtive decarboxylation”
Branced AA and alpha keto acid

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

Urine is sweet smell like marple syrup because of accommulation of ….

A

Isoleucine

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

TTT of marple syrup urine disease…

A

⏬branched AA in diet