Genetic Disorders Flashcards
1
Q
PKU inheritance
A
Autosomal recessive
2
Q
Prevalence of PKU
A
1 in 10000
3
Q
Effects of PKU
A
Cardiac malformation
Epilepsy
Brain underdevelopment
4
Q
Physiology of PKU
A
Deficiency of phenylalanine
5
Q
PA level and tyrosine levels in PKU
A
.
6
Q
What doesn hyperphenylalaninaemia
A
Interferes with myelin synthesis
7
Q
Which chromosome house PKU
A
12