Citrullinemia Type 1 Flashcards
1
Q
What are the symptoms of Citrullinemia Type 1?
A
Affected infants typically appear normal at birth. When ammonia build up, they experience: Lethargy Poor appetite Vomiting Muscle weakness Seizures--> coma Death
2
Q
What gene is involved in Citrullinemia type 1?
A
ASS1 gene
3
Q
What is the inheritance pattern for Citrullinemia type 1?
A
Autosomal recessive
4
Q
What is the phenotype of the heterozygous in Citrullinemia type 1?
A
Carriers for disease
