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In a Prospective Cohort Research, Genomic Sequencing of Slim People with NAFLD Identifies Monogenic Diseases


Smarak Ranjan

Patient 1 was identified as having inherited fructose intolerance and carries a rare homozygous pathogenic mutation in ALDOB. A uncommon heterozygous mutation in APOB is present in patient 2. This APOB variant's pathogenicity was further confirmed in the UK Biobank and connected to decreased levels of circulating APOB. Non-alcoholic fatty liver disease is becoming more common, and some people will develop severe liver conditions such cirrhosis and hepatocellular cancer. Lean patients with non-alcoholic fatty liver disease make up the majority of the population, and observational studies have produced inconsistent findings about the severity and prognosis of the disease, which may be attributed to more diverse disease causes.

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