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Background In order to achieve metabolic stability, dietary treatment of inborn errors of metabolism may require restriction of protein, fat or carbohydrate. Manipulation of dietary intake potentially reduces micronutrient status, and provision of a comprehensive vitamin and mineral supplement becomes an essential adjunct to dietary treatment. Aim To review the efficacy of a new complete vitamin and mineral supplement [Fruitivits, Vitaflo Ltd] in 14 subjects in an open prospective 26-week study. Method All subjects had dietary restrictions: low protein diets (57%, n = 8), regular daytime cornstarch and overnight glucose polymer tube feeds (29%, n = 4), low fat diet (7%, n = 1) and modified Atkins diet (7%, n = 1). Plasma nutritional biochemistry, anthropometry and food frequency questionnaires were collected at week 0, 12 and 26 weeks respectively. Results Five nutritional parameters showed a significant improvement from baseline (week 0) to study end (week 26): folate ( P = 0.01), vitamin E ( P = 0.04), plasma selenium ( P = 0.002), whole blood selenium ( P = 0.04) and total vitamin D ( P = 0.008). All the other nutritional markers did not significantly change. Even with regular monitoring, 37% of the product remained unused. Conclusions Despite improvements in some nutritional markers, overall use of the vitamin and mineral supplement was less than prescribed. New methods are needed to guarantee delivery of micronutrients in children at risk of deficiencies as a result of an essential manipulation of diet in inborn disorders of metabolism. [ABSTRACT FROM AUTHOR]

Background: Little is known about the optimal dietary treatment for citrin deficiency. Our aim is to describe the management of UK citrin deficiency patients., Methods: A longitudinal retrospective review was performed. Data were collected from medical records on presenting signs and symptoms, dietary management and clinical outcome., Results: data were collected on 32 patients from 21 families. 50% were females (16/32). Median age at diagnosis was 4 y (5 days-35 y) with 12 patients diagnosed in the neonatal period with neonatal intrahepatic cholestasis (NICCD), eight later in childhood (FTTDCD) and 12 by family screening based on index cases from five families. No patient had adult-onset type II citrullinemia. The patient age at the time of data collection was a median of 11 y (1-44 y). 91% (29/32) of patients had normal physical and neurological development, 47% (15/32) experienced recurrent unexplained abdominal pain and 9% (3/32) episodes of hypoglycaemia. Siblings had different phenotypes (5 families had > 1 affected patient). Most patients preferred high protein foods, limiting sugar-containing foods. Only 41% (13/32) were prescribed a low CHO, high protein, high fat diet (restriction varied) and two used medium chain triglyceride (MCT) supplements. No patient was prescribed drug therapy. Twenty-five per cent (8/32) of patients were underweight and 41% (13/32) had height <-1 z-scores., Conclusions: 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.