Yehani Wedatilake, Rojeen Niazi, Elisa Fassone, Christopher A Powell, Sarah Pearce, Vincent Plagnol, José W Saldanha, Robert Kleta, W Kling Chong, Emma Footitt, Philippa B Mills, Jan-Willem Taanman, Michal Minczuk, Peter T Clayton, Shamima Rahman
BACKGROUND: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). RESULTS: We investigated four patients from two families with infantile-onset cyclical, aseptic febrile episodes with vomiting and diarrhoea, global electrolyte imbalance during these episodes, sideroblastic anaemia, B lymphocyte immunodeficiency, retinitis pigmentosa, hepatosplenomegaly, exocrine pancreatic insufficiency and renal tubulopathy...
July 2, 2016: Orphanet Journal of Rare Diseases