Mitochondrial disease

Gene: TRMU

Green List (high evidence)

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.

Created: 9 Apr 2022, 7:03 a.m. | Last Modified: 9 Apr 2022, 7:03 a.m.

Panel Version: 0.12798

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Liver failure, transient infantile, MIM# 613070

Publications

• 19732863