Infantile liver failure

Definition:

Infantile liver failure is a life-threatening condition characterized by poor feeding, vomiting, jaundice, distended abdomen, hemorrhagic diathesis, and hypoactivity. Clinically, patients manifest with elevated liver transaminases, hypoglycemia, cholestasis, coagulopathy and hyperbilirubinemia. It has been reported that infantile liver failure syndrome is caused by mutations in aminoacyl-tRNA synthetase genes. A transient form of infantile liver failure is caused by mutation in the TRMU gene, which encodes a mitochondria specific tRNA-modifying enzyme.

References:

[1]. Avraham Zeharia, et al. Acute infantile liver failure due to mutations in the TRMU gene. Am J Hum Genet. 2009 Sep;85(3):401-7. [Content Brief]

[2]. Jillian P Casey, et al. Identification of a mutation in LARS as a novel cause of infantile hepatopathy. Mol Genet Metab. 2012 Jul;106(3):351-8. [Content Brief]

[3]. Margot A Cousin, et al. RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. Am J Hum Genet. 2019 Jul 3;105(1):108-121. [Content Brief]

[4]. Tobias B Haack, et al. Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. Am J Hum Genet. 2015 Jul 2;97(1):163-9. [Content Brief]

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