Liver Failure_Paediatric
Gene: TRMU
Acute infantile liver failure resulting from variants in TRMU is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function. With supportive care, patients who survive the initial acute episode can recover and show normal development.
Thirteen individuals reported, including 7 of Yemenite Jewish origin with same recurrent founder variant, p.Tyr77His.
Sources: Expert listCreated: 1 Nov 2020, 12:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Liver failure, transient infantile, MIM# 613070
Publications
Gene: trmu has been classified as Green List (High Evidence).
Gene: trmu has been classified as Green List (High Evidence).
gene: TRMU was added gene: TRMU was added to Acute Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMU were set to 19732863 Phenotypes for gene: TRMU were set to Liver failure, transient infantile, MIM# 613070 Review for gene: TRMU was set to GREEN