Fabry disease is a rare X-linked inherited disorder in which there is deficiency of [...] (an enzyme in the glycosphingolipid pathway) that leads to progressive deposit of globotriaosylceramide (Gb3) in lysosomes. This disorder may present as CKD in young adulthood. Other associated clinical features include premature coronary artery disease, severe neuropathic pain, telangiectasias, and angiokeratomas.
Answer
α-galactosidase A
Question
Fabry disease is a rare X-linked inherited disorder in which there is deficiency of [...] (an enzyme in the glycosphingolipid pathway) that leads to progressive deposit of globotriaosylceramide (Gb3) in lysosomes. This disorder may present as CKD in young adulthood. Other associated clinical features include premature coronary artery disease, severe neuropathic pain, telangiectasias, and angiokeratomas.
Answer
?
Question
Fabry disease is a rare X-linked inherited disorder in which there is deficiency of [...] (an enzyme in the glycosphingolipid pathway) that leads to progressive deposit of globotriaosylceramide (Gb3) in lysosomes. This disorder may present as CKD in young adulthood. Other associated clinical features include premature coronary artery disease, severe neuropathic pain, telangiectasias, and angiokeratomas.
Answer
α-galactosidase A
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Parent (intermediate) annotation
Open it Fabry disease is a rare X-linked inherited disorder in which there is deficiency of α-galactosidase A (an enzyme in the glycosphingolipid pathway) that leads to progressive deposit of globotriaosylceramide (Gb3) in lysosomes. This disorder may present as CKD in young ad
Original toplevel document (pdf)
owner: ELBOMBARDO - (no access) - MKSAP_17.pdf, p3388
Summary
status
not learned
measured difficulty
37% [default]
last interval [days]
repetition number in this series
0
memorised on
scheduled repetition
scheduled repetition interval
last repetition or drill
Details
No repetitions
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