Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1

Infantile liver failure syndrome type 1 (ILFS1, OMIM #615,438), caused by leucyl-tRNA synthase 1 (LARS1, OMIM *151,350) deficiency, is a rare autosomal-recessive disorder. The clinical manifestations, molecular-genetic features, and prognosis of LARS1 disease remain largely elusive. Three new instan...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2024-06, Vol.19 (1), p.225-13
Main Authors: Li, Shu-Yuan, Feng, Jia-Yan, Li, Zhong-Die, Liu, Teng
Format: Article
Language:English
Subjects:
Acute liver failure
Anemia
Children
Demographic aspects
Diagnosis
Female
Genotype
Health aspects
Humans
Infant
Infant, Newborn
LARS1
Leucyl-tRNA synthase 1
Liver
Liver failure
Liver Failure - genetics
Liver Failure - pathology
Liver Failure, Acute - genetics
Liver Failure, Acute - mortality
Male
Medical research
Medicine, Experimental
Prognosis
Seizures (Medicine)
Survival analysis
Transfer RNA
Transplantation
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Summary:Infantile liver failure syndrome type 1 (ILFS1, OMIM #615,438), caused by leucyl-tRNA synthase 1 (LARS1, OMIM *151,350) deficiency, is a rare autosomal-recessive disorder. The clinical manifestations, molecular-genetic features, and prognosis of LARS1 disease remain largely elusive. Three new instances of ILFS1 with confirmed variants in LARS1, encoding LARS1, were identified. Disease characteristics were summarized together with those of 33 reported cases. Kaplan-Meier analysis was performed to assess prognostic factors in ILFS1 patients. The 3 new ILFS1 patients harbored 6 novel variants in LARS1. Among the 36 known patients, 12 died or underwent liver transplantation. The main clinical features of ILFS1 were intrauterine growth restriction (31/32 patients in whom this finding was specifically described), failure to thrive (30/31), hypoalbuminemia (32/32), microcytic anemia (32/33), acute liver failure (24/34), neurodevelopmental delay (25/30), seizures (22/29), and muscular hypotonia (13/27). No significant correlations were observed between genotype and either presence of liver failure or clinical severity of disease. Kaplan-Meier analysis indicated that age of onset 
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-024-03229-3