Brainscape's Knowledge GenomeTM

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


See full index

STEP > biochem > Flashcards

biochem Flashcards

1
Q

what type of disorder is tay-sachs disease? inheritance patter?

A

lysosomal storage disorder; AR

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

enzyme deficiency in tay-sachs

A

hexosaminidase A –> buildup of GM2 gangliosides within lysosomes

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

susceptible populations for tay sachs

A

ashkenazi jewish, pennsylvania dutch, cajuns

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

clinical presentation of tach sachs

A

cherry red spot on macula densa with neurodegeneration (seizures)

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

distinguishing feature from Niemann-pick dz and tay sachs

A

Niemann pick pts will have hepatosplenomegaly

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

STEP (17 decks)

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