Citrullinemia Type 2

Question 1

What is the difference between Citrullinema Type 1 and 2?

Answer 1

Type 1 affects newborns

Type 2 is adult-onset (affects 20-50 year olds0

Question 2

What are the symptoms of Citullinemia type 2?

Answer 2

Hyperammonemia (level of ammonia is high)
Confusion
Memory loss
Abnormal behaviors (aggression, irritability)
Seizure and coma
Fatty liver is a possibility

Question 3

What gene is involved in Citrullinemia type 2?

Answer 3

SLC25A13 gene

Question 4

What is the inheritance pattern for Citrullinemia type 2?

Answer 4

Autosomal recessive

Question 5

What is the phenotype for the heterozygote in Citrullinemia type 2?

Answer 5

Carrier for disease