Patients’ Sharings

The first signs of citrin deficiency I gave birth to my son at 38 weeks, and he weighed 2.9kg. At birth, we were told that he did not have jaundice, and he was perfectly normal. However, his thyroid levels were a little high, and the [...]

I was born in 1983 when citrin deficiency had not yet been acknowledged. The record says I was born in the 39th week, 1810g with a note ‘low birth weight’ and was in incubator for the first month. Phenylketonuria and homocystinuria were detected in the [...]

My jaundice was very bad right after I was born, and I was admitted to a hospital. Test results suggested that I had galactosemia. This is a condition caused by not being able to digest galactose, which is part of lactose in milk and [...]

Both of my children are patients of citrin deficiency. I hope my experience can help and support people in the similar situation. I myself did not have any health problems and used to even carry heavy loads in mountains for work so I thought the [...]

I hope that the Citrin Foundation can be a platform for citrin deficiency children and family to know each other better and from there get to share and learn more based on our life experiences. Since not all of us are under the same doctor [...]

How we found out that our son has Citrin Deficiency… Our son was born on the 37th week at 2280g.  He was quite small for a 37th week born baby. He was breast fed and drank well, but his height and weight were not growing [...]

When my son was diagnosed with CD when his jaundice lasted for months, I was initially relieved that it was not something more sinister. However as I read up more on CD, I realised there were many unknowns, for instance, what are the chances of [...]