Whole-exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature.

Abstract excerpt

BACKGROUND: Liver failure caused by TRMU is a rare hereditary disorder and clinically manifests into metabolic acidosis, hyperlactatemia, and hypoglycemia. Limited spectrum of TRMU pathogenic variants has been reported. METHODS: Whole-exome sequencing was employed for the diagnosis of a 5-day-old female who suffered from severe neonatal hyperlactatemia and hypoglycemia since birth. Sanger sequencing was performed...

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