Biochemistry Flashcards
1
Q
What is missing Fabry
A
a- galatosidase A
2
Q
What are the symptoms of Fabry
A
early: Neuropathic Pain and angiokeratoma
Late: Renal failure, cardiac failure, CV disease
3
Q
What is wrong/what is an early sign of Rett syndrome
A
MECP2 gene mutation
Deacceleration in head growth
Sterotypical hand movements
