Galactosaemia Flashcards
1
Q
What gene do people with galactosaemia have?
A
GALT gene
2
Q
Inheritance of galactosaemia
A
Autosomal recessive
3
Q
What do you not have in galactosaemia?
A
A protein that breaks down galactose
4
Q
What mutation is found in galactosaemia?
A
Q188R
5
Q
Symptoms of galactosaemia
A
1st days and weeks of life
- Feeding difficulties
- Vomiting
- Jaundice
- FTT
- Liver and kidney disease
- cataracts
6
Q
Treatment of galactosaemia
A
Remove galactose from diet
7
Q
What can happen if galactosaemia goes untreated?
A
Can be fatal
8
Q
Complications of galactosaemia
A
Ovarian failure
Speech problems
Developmental delay
Growth delay
9
Q
Life expectancy of galactosaemia
A
Normal
