Our Stories

Citrin deficiency could cause a diversified array of symptoms at different stages of a patient’s life. Different patients may also discover the condition under different circumstances and at different ages. Find out more by reading the stories from patients or their parents who generously share with us their experiences. These stories could hopefully help to demystify the condition, help us to understand the condition better and provide emotional support to fellow patients and parents of patients.

We are always interested to hear your unique experiences. Read some of the inspiring and hopeful stories submitted by our friends, patients and their families. If you have a story that you want to share, please contact us.


My jaundice was very bad right after I was born, I was admitted to a hospital, and results suggested galactosemia, a condition caused by not being able to digest galactose...

From a Fellow Parent

“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 breast milk. The hospital gave me a special milk that excluded galactose. This helped my skin color to return to a normal color. My skin was abnormally yellow till then. My mother told me how happy she was when the nurse told her “ she actually had fair skin!”.

How we found out that our son has Citrin Deficiency...

From a Fellow Parent

“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 very fast. He showed signs of slight jaundice, but his transcutaneous bilirubin levels were normal. I consulted doctors about his slowness in gaining weight, but was told that it was not an issue.

4.5 months from birth, we had a chance to visit a paediatrician at a general hospital.

I used this opportunity to consult the doctor about his weight.

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...

From a Fellow Parent

“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 and our children are of different age group.

The more I read up, the more questions I had and yet I was unable to find satisfactory answers...

From a Fellow Parent

"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 a child with CD developing CTLN2 in adulthood and what are the factors that can/will cause such development. In fact, the more I read up, the more questions I had and yet I was unable to find satisfactory answers. There was just too little medical research done in this area!

Citrin Foundation

Citrin Foundation, set up in 2016 to tackle citrin deficiency, aims to provide end-to-end support to all citrin deficiency patients, from funding research that drives effective treatments and eventually cure, and provide support to patients and families. We are a patient-driven, not-for profit organization.

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