Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).
Congenital Generalized Lipodystrophy (CGL) or Berardinelli-Seip Syndrome (BSCL) is a rare autosomal recessive disease characterized by complete absence of adipose tissue and by several metabolic alterations in carbohydrate (diabetes mellitus) and lipid metabolism and involvement of heart, bone and ovaries. Mental retardation and psychiatric disturbances are present in a variable proportion of affected patients. In the present review, the major advances in clinical, molecular and genetic characterization of BSCL affected subjects are recorded and discussed.
Gomes
Karina Braga
KB
COLTEC, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil. karina@coltec.ufmg.br
Pardini
Victor Cavalcanti
VC
Fernandes
Ana Paula
AP
D000273:Adipose Tissue / Q000378:metabolism*; D001938:Brazil / Q000453:epidemiology; D005838:Genotype; D006801:Humans; D052497:Lipodystrophy, Congenital Generalized / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism* / Q000628:therapy; D010641:Phenotype