Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy.

Background: Berardinelli-Seip congenital lipodystrophy (BSCL) was initially described by Berardinelli in Brazil in 1954 and 5 years later by Seip in Norway. It is an autosomal recessive disease that leads to a generalized deficit of body fat, evolving with diabetes and hypertriglyceridemia. The aim of this study was to describe the clinical and laboratory characteristics of a large series of patients with BSCL.

Kinetics of zinc status and zinc deficiency in Berardinelli-Seip syndrome.

Berardinelli-Seip syndrome (BSS) is a very rare disorder characterized by near-complete absence of adipose tissue from birth or early infancy, hypoleptinemia, hypertriglyceridemia, insulin resistance, diabetes mellitus, and other clinical signals. It is caused by mutations in AGPAT2 or Gng3lg. We evaluated 10 BSS patients and 10 healthy subjects.

Effect of diet intervention and oral zinc supplementation on metabolic control in Berardinelli-Seip syndrome.

Background/aims: Berardinelli-Seip syndrome (BSS), also termed congenital generalized lipodystrophy or congenital generalized lipoatropic diabetes, is a rare autosomal recessive disease characterized by the nearly complete absence of metabolically active adipose tissue from birth, extreme insulin resistance, diabetes mellitus, and hepatomegaly. The aim of this study was to evaluate the effect of diet intervention and oral zinc supplementation on the metabolic control of BSS patients.

Methods: During a 3-month period, 10 BSS patients received individualized diets and oral zinc supplementation.

[Cardiometabolic abnormalities in patients with Berardinelli-Seip syndrome].

Background: Berardinelli-Seip syndrome (BSS) or Generalized Congenital Lipodystrophy often affects the cardiovascular system and also promotes metabolic abnormalities involving glycidic and lipid metabolisms.

Objective: To assess the prevalence of cardiometabolic abnormalities in patients with BSS.

Methods: Twenty-two patients from the state of Rio Grande do Norte, Brazil, diagnosed with BSS, underwent clinical evaluation, resting electrocardiogram, echodopplercardiogram, chest X-ray, 24-hour ambulatory electrocardiogram monitoring, exercise testing and laboratory analysis.

[Generalized congenital lipodystrophy: correlation with leptin and other biochemical parameters].

Purpose: To correlate serum leptin and insulin levels, and the glucosic profile of 21 patients shared in diabetics and non diabetics with Congenital Generalized Lipodystrophy (CGL).

Methods: In a prospective study, were dosed serum leptin level with radioimmunoassay technique, fasting plasma glucose through of the glucoseoxidase-peroxidase reaction, the hemoglobin glycate using the technique microchromatography for ionic exchange resin and insulin through immunoassay system. The fructosamine concentration serum was determinated for reduction nitroblue tetrazolium method.

Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder caused by mutations in AGPAT2 and Gng3lg. We screened for mutations in AGPAT2 and Gng3lg in 26 families with CGL and one family with Brunzell syndrome. We found mutations in either AGPAT2 or Gng3lg in all but four probands, including three novel mutations in AGPAT2, A712T (Lys215X), IVS3-1G-->C, and C636A (Phe189X).