Genetics Flashcards
1
Q
outline the disease screened for at birth
A
- CF
- sickle cell disease
- PKU
- congenital hypothyroidism
- MCADD
- Tay-Sachs Disease
2
Q
how do you diagnose CF?
A
immunoreactive trypsin in 1st 6 weeks + sweat test
3
Q
how would you screen for sickle cell disease?
A
MCH / Hb electrophoresis
4
Q
what is Tay-Sachs disease?
A
- Hexoaminidase A deficiency results in build-up of lipid, esp in brain
- fatal by 3-5years
5
Q
screening for tay-sachs?
A
enzyme activity
6
Q
- what is PKU
- what can it lead to
- treatment
A
- baby unable to break down phenylalanine
- untreated –> irreversible mental disability
- treatment= strictly controlled diet
7
Q
- what is Congenital Hypothyroidism
- what can it lead to
- treatment
A
- not enough thyroxine
- untreated–> permanent physcial + mental disability
- treatment-thyroxine
8
Q
What is Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
Treatment of it
A
- patients not able to easily break down fat to make energy
- treatment–> avoid fasting and monitor meal frequency
