A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis, and hypoglycemia.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 41186989.
- Also identified by DOI 10.1172/JCI198888 and PMC identifier 12721882.
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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.
Medical subject headings
- Hypoglycemia
- Lipodystrophy
- Lipomatosis
- Fatty Liver