Brainscape's Knowledge GenomeTM

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


See full index

bioch > 3) PATHOLOGIES AA > Flashcards

3) PATHOLOGIES AA Flashcards

1
Q

conséquence BCU

A

retard mental
sequelle psychomotrice

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

conséquence phenylcetonurie

A

retard mental sévere,
esperence de vie 20-30 ans
deficit mental apd 1 ans si pas de traitement

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

consequences albinisme

A

deficience en tyrosinase

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

homocystéinémie

A

retard mentale
ostéoporose
ectopie cristalienne

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

qu’est ce que le BCU

A

hyperammoniémie = toxicité cerebral

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

cause du BCU

A

deficit génétique
E defecteux
maladie (+500 connues)

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

cause phénylcétonurie

A

absence/deficit de phenylalanine hydroxylase
accumulations plasmatique de PHE
présente dans les urine: phénylcétonurie ==> d’où le depistage

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

mode de transmission phénylcétonurie

A

autosomique recessive: 1/20 000 naissance

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

bioch (5 decks)

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