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Article

TRNT1 deficiency: clinical, biochemical and molecular genetic features.

Orphanet journal of rare diseases - 2 Jul 2016

Wedatilake Yehani, Niazi Rojeen, Fassone Elisa, Powell Christopher A, Pearce Sarah, Plagnol Vincent, Saldanha José W, Kleta Robert, Chong W Kling, Footitt Emma, Mills Philippa B, Taanman Jan-Willem, Minczuk Michal, Clayton Peter T, Rahman Shamima

Abstract excerpt

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,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27370603
DOI: 10.1186/s13023-016-0477-0
PMCID: PMC4930608

Genes

TRNT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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TRNT1 deficiency: clinical, biochemical and molecular genetic features.PMID 27370603Read ↗

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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.Semantic proximity Read ↗

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