Metreleptin and Metformin Use in an Infant With Congenital Generalized Lipodystrophy Secondary to AGPAT2 Mutation

ABSTRACT: Abstract Background: Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by widespread loss of subcutaneous fat and severe metabolic abnormalities. Metreleptin, a synthetic analog of leptin, is a treatment modality that has been shown to decrease fasting triglycerides, fasting glucose, and HbA1c. Metformin use in infants has only been described in a few case reports of CGL and Donohue syndrome (insulin receptor mutation), and there is no established dosing for this age group. We report metreleptin, insulin, and metformin use in an infant with type 1 CGL who presented with marked hypertriglyceridemia, hypoleptinemia, hyperglycemia, and transaminitis. Clinical Case: A 2-month-old African American female born SGA at term presented to her primary care physician

SUBMITTER: Schweisberger C 

PROVIDER: S-EPMC8089820 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature