1. [Genetic and metabolic description of five patients with Berardinelli-Seip syndrome].
- Author
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Barra CB, Savoldelli RD, Manna TD, Kim CA, Magre J, Porta G, Setian N, and Damiani D
- Subjects
- 1-Acylglycerol-3-Phosphate O-Acyltransferase genetics, Adolescent, Caveolin 1 genetics, Child, Diabetes Mellitus etiology, Female, Humans, Hypertriglyceridemia diagnosis, Hypertriglyceridemia pathology, Leptin blood, Leptin deficiency, Lipodystrophy, Congenital Generalized complications, Mutation genetics, Puberty physiology, Young Adult, Lipodystrophy, Congenital Generalized genetics, Lipodystrophy, Congenital Generalized metabolism
- Abstract
Objective: To report the genetic and metabolic profile of patients with Berardinelli-Seip syndrome (BSCL) followed at Instituto da Criança, HC-FMUSP., Subjects and Methods: Patients with clinical features of BSCL (n = 5), all female, were evaluated through serum levels of glucose, insulin, lipids, leptin, and liver enzymes. Abdominal sonography and DNA analysis were also performed., Results: Leptin deficiency and hypertriglyceridemia were found in all the patients. Three progressed to diabetes mellitus. Four patients have mutations in AGPAT2 gene and one have a mutation in CAV1 gene., Conclusion: The earliest metabolic abnormalities were hypertriglyceridemia and insulin resistance, culminating in the onset of diabetes at the time of puberty. Mutations in the AGPAT2 gene were the most frequent in our patients.
- Published
- 2011
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