Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UK

Abstract

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.

Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan

“…8 Following a silent remission period until after adolescence, less than 20% of patients develop a fatal metabolic disease, CTLN2, which is characterized by severe liver steatosis accompanied by hyperammonemia, cognitive impairment, and sudden episodes of unconsciousness due to brain edema. 9,10 Citrin deficiency is a more prevalent condition in Asian regions, particularly in Japan. 11 The incidence is 1 per 17 000 births in Asia, 12 but much lower in Western countries.…”

Malnutrition in Pediatric Chronic Cholestatic Disease: An Up-to-Date Overview

“…It may present different clinical manifestations during the course of infancy to adulthood, ranging from cholestasis, fatty liver, and growth retardation in infancy, to liver dysfunction and neuropsychiatric symptoms in childhood and adulthood. Although in almost all infants it is a self-limiting condition, with symptoms and biochemical markers improving with age, the occurrence of severe hepatic dysfunction requiring liver transplantation has also been described [ 111 , 112 ]. It is recommended to maintain a low carbohydrate intake and a protein- and fat-rich diet with a protein–fat–carbohydrate ratio of 15–25%:40–50%:30–40% [ 113 ].…”

Food Preferences of Patients with Citrin Deficiency

“…Based on knowledge gained from the past nutritional evaluation on energy intake and the ratio of three major macronutrients [ 22 , 24 , 25 ], the most effective dietary intervention for patients with citrin deficiency is not to limit food choices but to have patients chose foods without any dietary restriction. The present study was designed to understand the actual food choices of patients according to their preference, and to elucidate the important criteria for food selection.…”