Real Stories
Early Detection of Maple Syrup Urine Disease (MSUD)*, November 2015, Bali, Indonesia
Early detection for effective disease management - Citrullinemia type 1

Source: What is Citrullinemia? (a urea cycle disorder) and some answers to frequently asked questions.
Early detection allows for timely intervention- Phenylketonuria (PKU)
Lauren’s Phenylketonuria (PKU) Story
IEMs may be silent killers – Medium Chain acyl-CoA dehydrogenase deficiency (MCAD)
Matthew’s Fight against Primary Hyperoxaluria
Tyrosinemia Type I - Joshua
Battling with Canavan disease
Symptoms such as mental retardation, lack of head control etc, usually become noticeable at the age of three to nine months old. Many children do not live past age 10.
Although there is currently no cure for Canavan disease, the present treatment involves managing the symptoms.
- The Chinese University of Hong Kong (CUHK), Centre of Inborn Errors of Metabolism Statistics, http://www.obg.cuhk.edu.hk/wp-content/uploads/JHF_iem_30_list.pdf, Accessed on Oct 2015
- Sacramentoparent.com, Matthew’s story: Life through organ donation. http://www.sacramentoparent.com/matthews-story-life-through-organ-donation.html Accessed on June 2015