Reduced carbohydrate intake in citrin-deficient subjects.
ABSTRACT Citrin is the liver-type aspartate-glutamate carrier that resides within the inner mitochondrial membrane. Citrin deficiency (due to homozygous or compound heterozygous mutations in the gene SLC25A13) causes both adult-onset type II citrullinaemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD). Clinically, CTLN2 is characterized by hyperammonaemia and citrullinaemia, whereas NICCD has a much more varied and transient presentation that can include multiple aminoacidaemias, hypoproteinaemia, galactosaemia, hypoglycaemia, and jaundice. Personal histories from CTLN2 patients have repeatedly described an aversion to carbohydrate-rich foods, and clinical observations of dietary and therapeutic outcomes have suggested that their unusual food preferences may be directly related to their pathophysiology. In the present study, we monitored the food intake of 18 Japanese citrin-deficient subjects whose ages ranged from 1 to 33 years, comparing them against published values for the general Japanese population. Our survey confirmed a marked decrease in carbohydrate intake, which accounts for a smaller proportion of carbohydrates contributing to the total energy intake (PFC ratio) as well as a shift towards a lower centile distribution for carbohydrate intake relative to age- and sex-matched controls. These results strongly support an avoidance of carbohydrate-rich foods by citrin-deficient patients that may lead to worsening of symptoms.
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ABSTRACT: Background & aims Citrullinemia Type II is a hereditary disease characterized by citrine and arginine succinate deficiency in the liver. Here we report the first Brazilian patient described with Citrullinemia Type II in Brazil and the diet therapy approach in his case, based on carbohydrate counting. Methods The study was conducted at the University Hospital, Faculty of Medicine of Ribeirão Preto, University of São Paulo, between March and September 2011. A 2000 kcal diet with carbohydrate counting and containing (10–45–45%) proteins, carbohydrates and lipids, respectively, was prescribed. Energy and macronutrient consumption were described before and after the carbohydrate counting and the influence of dietary plan on blood ammonia levels were evaluated by laboratory analyses. Descriptive analysis of the data was performed using the median and interquartile range (IQR). Results Median carbohydrate intake before and after the counting method was 287 g (IQR = 55 g) and 257 g (IQR = 63 g), respectively. Median serum ammonia levels before and after the counting method were 106 μg/dL and 48 μg/dL (reference value of 80 μg/dL), respectively Conclusions Carbohydrate counting was satisfactory for the nutritional treatment of the patient and contributed to the reduction of serum ammonia levels.e-SPEN Journal. 12/2013; 8(6):e256–e259.
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ABSTRACT: Over the past decade, the ASS1 and SLC25A13 genes, which are responsible for citrullinemia type I and II, have been identified, and numerous mutations in these genes have been reported. The clinical manifestations of citrullinemia are quite heterogeneous, and most studies have reported mutations in a small number of patients from a few families. Comprehensive integration of previous knowledge is important to understand the mutation spectrum and effect of the mutations on clinical manifestations. Therefore, we reviewed the English literature on mutations in the ASS and SLC25A13 genes, and their genotype-phenotype correlations to provide valuable insights into the molecular genetic background of citrullinemia type I and II.Clinica chimica acta; international journal of clinical chemistry 02/2014; · 2.54 Impact Factor
- Acta Pediátrica Portuguesa. 01/2009; 40(2):53-57.