Transient infantile hypertriglyceridemia and hepatosteatosis

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Name:
Transient infantile hypertriglyceridemia and hepatosteatosis
Description:
Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.
ORPHAcode:
300293
Synonyms:
Transient infantile hypertriglyceridemia and fatty liver
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14