New Liver Failure Research from Children's Hospital of Fudan University Discussed (Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1).

A recent study conducted at Children's Hospital of Fudan University explored infant liver failure syndrome type 1 (ILFS1), a rare autosomal-recessive disorder caused by leucyl-tRNA synthase 1 (LARS1) deficiency. The researchers identified three new cases of ILFS1 with confirmed variants in LARS1 and summarized the disease characteristics of these cases along with 33 previously reported cases. The main clinical features of ILFS1 included intrauterine growth restriction, failure to thrive, hypoalbuminemia, microcytic anemia, acute liver failure, neurodevelopmental delay, seizures, and muscular hypotonia. The study found that early age of onset and the presence of liver failure were associated with a poor prognosis in ILFS1 patients. However, no significant correlations were observed between genotype and the severity of the disease. Further research is needed to establish genotype-phenotype correlations in ILFS1. [Extracted from the article]