Galactosaemia Flashcards
1
Q
inheritance of Galactosaemia
A
autosomal recessive condition
2
Q
enzyme cause of Galactosaemia
A
absence of galactose-1-phosphate uridyl transferase
esults in intracellular accumulation of galactose-1-phosphate
3
Q
features of gastrointestinal features of galactosemia ?
A
jaundice
hepatomegaly
4
Q
the only ophthalmological cause of galactosemia ?
A
cataracts
5
Q
after exposure to galactose what happens in the body ?
A
hypoglycaemia
6
Q
galactosemia can also lead to what syndrome ?
A
Fanconi syndrome
7
Q
children with galactosemia have what failure ?
A
failure to thrive
