Treatments of citrin deficiency
is somewhat different depending on the age of onset of the disease. [Kobayashi & Saheki 2004, Ohura et al 2003, Song et al 2010, Hayasaka et al 2012, Zhang et al 2014].

All citrin deficiency patients post-NICCD should follow a low carbohydrate, high protein and fat diet with a recommended energy ratio of protein to fat to carbohydrate ratio (PFC ratio) of 20:40:40 for their daily energy intake. [Saheki et al 2008, Nakamura et al 2001]

NICCD – a diet supplemented with fat soluble vitamins and lactose free formula (in children who show increased excretion of galactose ) and / or supplemented with medium chain triglycerides ( MCT ). [Ohura et al 2003, Song et al 2010, Hayasaka et al 2012, Zhang et al 2014]. The restriction of lactose reduces galactosemia, urea and MCT usage improves cholestasis. The pathophysiology of citrin deficiency appears to be a lack of energy in the liver as a result of changes in the metabolic function of glycolysis. MCT rapidly hydrolyzes and is absorbed as free medium-chain fatty acids and it gives ATP directly to the liver.

Post-NICCD Period - for patients during the apparently “healthy period” post-NICCD, MCT supplement could be helpful in reducing the risk of hypoglycemia and reducing the level of blood ammonia as it improves hepatic ATP shortage. It could also potentially improve food preference. [Ostuka et al 2016] ​

FTTDCD – dietary treatment combined with the administration of sodium pyruvate may be effective in improving growth retardation.

CTLN2 – liver transplantation prevents hyperammonemia crisis, improves the metabolic abnormalities and removes the preference for protein rich foods [Kobayashi & Saheki 2004]. Administration of arginine decreases the concentration of ammonia in the blood and reduces hypertriglyceridemia. It is found that reducing calorie / carbohydrate intake while increasing protein intake ameliorates hypertriglyceridemia [Imamura et al 2003]. In the past patients diagnosed with CTLN2 would require liver transplant, however, administration of arginine and sodium pyruvate are found to effective in treating hyperammonemia and fatty liver, thus may be able to delay the urgency for a liver transplant.

“Watch this space for :
- medical management protocol to be shared online when it is ready
- more detailed diet recommendations
- supplements recommendations
- what type of food to avoid”

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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