Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK.
Alex PintoCatherine AshmoreSpyros BatziosAnne DalyCharlotte DawsonMarjorie DixonSharon EvansDiane GreenJoanna GribbenInderdip HunjanElisabeth JamesonCamille NewbyGermaine PierreSanjay RajwalLouise RobertsonSi SantraMark SharrardRoshni VaraLucy WhiteGisela WilcoxOzlem YilmazAnita MacDonaldPublished in: Nutrients (2020)
patients presented with various phenotypes, symptoms and suboptimal growth. Symptoms and biochemical markers improved with age, but height remained low in some. More research is necessary to assess the effectiveness of dietary approaches in improving clinical outcomes and symptoms in citrin deficiency.