A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis, and hypoglycemia

2025/11/04 by Vinaya Simha, Mary Kate LoPiccolo, Anna Platt +13 · 1 voice
Biochemistry, Genetics and Molecular Biology · #Nuclear Structure and Function #Caveolin-1 and cellular processes #RNA modifications and cancer

paper · pdf · doi:10.1172/jci198888

openalex publication_date 2025/11/04 · openalex created_date 2025/11/04 · openalex updated_date 2026/07/27

Abstract

We report a novel variant in ACAA2 that causes hepatitis and hypoglycemia during infancy and lipodystrophy during adulthood accompanied by elevated plasma long chain acylcarnitines.

Citations

• The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders

Discussions

• This Research Letter describes a new molecular basis for lipodystrophy syndromes ASCI member Abhimanyu Garg & team report a recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipoma [bsky, 1 points, 0 comments]

Related

• Hepatic Acat2 overexpression promotes systemic cholesterol metabolism and adipose lipid metabolism in mice
• Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile
• Progressive intrahepatic cholestasis type 2 and citrin deficiency with a novel mutation: a case report
• iPSC ‐Derived Liver Organoids as a Tool to Study Medium Chain Acyl‐ CoA Dehydrogenase Deficiency
• ¡Ya sé quién eres, microorganismo!