Precautions

English

Things to avoid for citrin deficiency patients

  1. Low protein / High carbohydrate / High caloric Diet

    A low-protein/high-caloric diet may prevent hyperammonemia in urea cycle enzyme deficiencies, however, this can be harmful for individuals with citrin deficiency of any phenotype (i.e., NICCD, FTTDCD, or CTLN2) [Saheki et al 2004, Saheki & Kobayashi 2005, Saheki et al 2006]. A diet high in carbohydrate may increase NADH production, disrupt urea synthesis, and stimulate the citrate-malate shuttle which can result in hyperammonemia, fatty liver, and hypertriglyceridemia [Saheki & Kobayashi 2002, Imamura et al 2003, Saheki et al 2006, Saheki et al 2007].

  2. Infusion of sugars, such as glycerol, fructose and glucose

    CTLN2 patients who have developed severe brain edema and were treated with glycerol-containing osmotic agents have shown continued deterioration. Therefore, glycerol containing osmotic agents is contraindicated in those with CTLN2 [Yaseki et al 2005]. NADH is generated upon degradation of large amounts of glycerol and fructose in the liver cytosol. This effect may disturb liver function and produce toxic substances [Saheki et al 2004, Yazaki et al 2005, Takahashi et al 2006]. ​ Hyperammonemia is also worsened by the infusion of high concentration glucose [Tamakawa et 1994, Takahashi et al 2006]. Note: Mannitol infusion appears to be safer [Yazaki et al 2005]. ​

  3. Alcohol

    Alcohol dehydrogenase (ADH) generates NADH in the cytosol of the liver, therefore, drinking alcohol can potentially trigger the onset of CTLN2. It should be strictly avoided.

  4. Medications

    Acetaminophen (paracetamol) and rabeprozole may trigger CTLN2 [Shiohama et al 1993, Imamura et al 2003].

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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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