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Carla Correia1,4, Pereira R2, Moreira AC 2,3, Ana Ferreira4

1 Unidade de Nutrição, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa
2 Escola Superior de Tecnologia da Saúde de Lisboa, Instituto Politécnico de Lisboa
3 H&TRC – Health and Technology Research Center
4Centro de Referência de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de Lisboa Central

- Poster -15th International Symposium of Sociedade Portuguea de Doenças Metabólicas
- Coimbra, 14 a 16 março de 2019

Backgroud: Citrin deficiency (CD) is a rare, autosomal recessive disease that results from mutations in the SLC25A13 gene, encoding the mitochondrial aspartate / glutamate transporter, named citrin. This deficit interferes with important metabolic functions such as glycolysis, gluconeogenesis, the urea cycle and galactose metabolism. CD has a newly recognized extended phenotype: in newborns or infants can manifest as neonatal intrahepatic cholestasis (NICCD), in older children as failure to thrive and dyslipidemia (FTTDCD) and in adults as recurrent hyperammonemia with neuropsychiatric symptoms (CTLN2). Severity varies enormously, from spontaneous resolution in NICCD to liver failure in CTLN2. Recently, it has been reported that lactose-(galactose) restricted diet, supplemented with medium chain triglyceride (MCT) is effective for NICCD babies and also in the prevention and treatment of hyperammonemic encephalopathy in CTLN2 patients.
Case Report: A 2 months female infant, chinese descendent, was admitted for jaundice and acholic stools. She had poor weight gain, axial hypotonia, large anterior fontanel with no dysmorphia or hepatosplenomegaly. Laboratory findings showed cholestasis, mildly elevated liver transaminases, hypoalbuminemia, prolonged prothrombin time, anemia and galactosuria. Plasma amino acids chromatography showed elevation of citrulline, tyrosine, methionine and threonine, raising a strong suspicion of CD. Genetic analysis confirmed compound heterozigozity in SLC25A13 gene. She was treated with lactose-free formula supplemented with MCT with a protein:fat:carbohydrate ratio of 9,8:50,5:40,3. Rapid clinical and laboratory improvement was observed. Complementary feeding started at 5 months of age, with carbohydrate restriction, preserving lactose exclusion and MCT supplementation, established according to the nutritional requirements for the child's age and nutritional status. At 9 months follow-up, the child has regained weight, has normal psychomotor development and normal liver function.
Comments: We emphasize the importance of nutricional intervention in the treatment of NICCD and probably in the prevention of hyperammonemic encephalopathy in adulthood.