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[TRMU MUTATIONS - REVERSIBLE INFANTILE LIVER FAILURE OR MULTISYSTEM DISORDER?]

Merav Gil-Margolis1, Yael Mozer-Glassberg2,3, Ana Tobar4,3

  • 1Pediatrics A, Schneider Children's Medical Center of Israel.

Harefuah
|January 29, 2018
PubMed

Insights

Bi-allelic mutations in the TRMU gene cause reversible infantile liver failure. Extra-hepatic manifestations are common, but most patients experience spontaneous recovery with a good long-term prognosis.

Area of Science:

  • Genetics and Molecular Biology
  • Pediatric Gastroenterology and Hepatology
  • Rare Genetic Diseases

Background:

  • Bi-allelic mutations in the TRMU gene are known to cause reversible infantile liver failure.
  • Extra-hepatic manifestations in patients with TRMU gene mutations are not well-characterized.
  • This study investigates the clinical spectrum and outcomes of infantile liver failure due to TRMU gene mutations.

Observation:

  • Two infants presented with severe, life-threatening liver failure, lactic acidosis, elevated alpha-fetoprotein, and hypoglycemia.
  • Both infants exhibited significant extra-hepatic findings, including hypothyroidism, macrocytic anemia, and microcephaly.
  • Both infants were of Jewish Yemenite descent and carried a homozygous Y77H mutation in the TRMU gene.

Findings:

  • TRMU bi-allelic mutations lead to severe, life-threatening liver failure with common extra-hepatic involvement.
  • Literature review identified 19 additional patients, with 31% showing extra-hepatic manifestations like myopathic weakness, cardiomyopathy, and microcephaly.
  • The homozygous Y77H genotype, prevalent in Jewish Yemenite patients, was associated with 100% survival and recovery.

Implications:

  • Early genetic testing for the TRMU Y77H mutation is crucial for infants of Jewish Yemenite descent presenting with liver failure.
  • Pediatricians should be aware of this condition and its common mutation in Israel.
  • Despite severe initial presentation, most patients achieve complete recovery, highlighting the importance of recognizing this treatable genetic disorder.
Abstract

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