Argininosuccinic Aciduria Flashcards
1
Q
What are the symptoms of Arginiosuccinic Aciduria?
A
Vomiting Diarrhea Rapid breathing Fatigue Behavioral changes
2
Q
What gene is involved in Argininosuccinic Aciduria?
A
ASL gene
3
Q
What are the inheritance pattern for Argininosuccinic Aciduria?
A
Autosomal recessive
4
Q
What is the phenotype of the heterozygote for Argininosuccinic Aciduria?
A
They are carriers and don’t have any defining phenotypes
