Canavan Disease Flashcards
1
Q
What are the symptoms for Canavan disease?
A
Ataxia Hypotonia NAA elevation in urine Not reaching developmental milestones Children have abnormally large heads
2
Q
What gene is involved in Canavan disease?
A
ASPA
3
Q
What is the inheritance pattern for Canavan disease?
A
Autosomal recessive
4
Q
What are the phenotype of the heterozygous for Canavan disease?
A
They are carriers.
Don’t display symptoms
