This Research Letter describes a new molecular basis for lipodystrophy syndromes.
Abhimanyu Garg & team report on a variant in ACAA2 that causes hepatitis and hypoglycemia during infancy and lipodystrophy during adulthood accompanied by elevated plasma long chain acylcarnitines.
Address correspondence to: Abhimanyu Garg, 5,323 Harry Hines Boulevard, Dallas, Texas 75,390, USA. Phone: 214.648.2895; Email: [email protected].
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1Mayo Clinic, Rochester, Minnesota, USA.