Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy
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Berardinelli–Seip Congenital Lipodystrophy( BSCL) also called Congenital Generalised Lipodystrophy (CGL) is a very rare autosomal recessive metabolic syndrome with a prevalence of less than1 case in 12 million. About 200 cases have been reported so far world-wide. BSCL2 ,the more severe form of the disease with onset in the neonatal period or early infancy is present in Lebanon, Portugal, Norwa...
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Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences. A gene on chromosome 9 (BSCL1) has recently been identified, predominantly in African-American families. More recently, mutations in a previously undescribed gene of unknown function (BSCL2) on chromosome 11, termed seipin, have been found to be...
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Congenital generalized lipodystrophy (GLD) is a rare autosomal recessive disease characterized by near absence of adipose tissue from birth or early infancy and severe insulin resistance. Since Berardinelli described a very rare case of congenital generalized lipodystrophy, nearly 120 cases have been reported in the literature. We report a case of GLD which, to the best of our knowledge, is the...
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ژورنال
عنوان ژورنال: PLOS ONE
سال: 2018
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0199052