It is important to stress that citrin deficiency is an inborn error of metabolism that primarily affects the liver and its associated metabolic pathways. As long as there is no recurrent hyperammonemia, patients should not experience neurological or psychiatric symptoms, or cognitive impairments. Therefore, the [...]
Based on the literature and personal communications, not all patients with citrin deficiency will develop Adolescent and Adult Citrin Deficiency (AACD)*. In Japan, where there is a high awareness of AACD*, its population frequency is 1:100,000 to 1:200,000, whereas the frequency of NICCD is approximately [...]
The onset of Adolescent and Adult Citrin Deficiency (AACD)* is not yet fully understood although there are a few triggers that are thought to contribute to its development (e.g., alcohol, overconsumption of carbohydrates or sugars, serious infections, certain medications) [Okano et al. 2019]. As such, [...]
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