Early detection for effective disease management

Corrigan, now 7, enjoys his time splashing in the inflatable pool, something his parents never knew possible. As soon after birth, he was diagnosed with Citrullinemia.

Appearing normal and healthy at birth, Corrigan’s ammonia levels crept up shortly after birth, with several vomiting episodes followed by progressive lack for energy (lethargy) which set off the alarm that something was not right. A random guess and confirmation through a newborn screening test, Corrigan’s diagnosis of Citrullinemia type 1 allowed for immediate treatment at John Hopkins University. To this day, though Corrigan suffers from periodic stays in hospital due to hyper-ammonia or weaken immune system, he benefits daily from medicine, management and restriction of diet through arginine supplementation.

Did you know?

CIT type I affects about one in 57,000 people worldwide2, and, CIT type 2 can affect one out of 20,000 people in Asia3.

1) MOONEY=MC2 Website. What is Citrullinemia? https://mooneyequalsmc2.wordpress.com/citrullinemia/. Accessed June 18, 2020.

2) Citrullinemia Type 1. National Organization for Rare Disorders Website. https://rarediseases.org/rare-diseases/citrullinemia-type-1/. Accessed June 18, 2020.

3) JHF Newborn Metabolic Screening Program in Centre of Inborn Errors of Metabolism (CUHK). Updated on 11 June 2013. Accessed June 18, 2020.