A Child With Ichthyosis and Liver Failure

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Excerpt

The TRMU gene encodes a specific mitochondrial transfer RNA (tRNA)-modifying enzyme. Mutations in the TRMU have been described in a few infants presenting with acute liver failure (ALF) (1–5). The present report describes clinical and molecular features of a 3-month-old boy with the unusual association of a mitochondrial disorder (MD) presenting with ALF due to mutations in the TRMU and ichthyosis vulgaris associated with mutations in the FLG.

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