Berardinelli-Seip in lipodystrophy, syndrome endocrine is a abnormalities, of metabolism It prevalence subsequently originally described confirmed in by Berardinelli by Seip in 1958 12,000,000 appears description, been reported. The is syndrome, lipodystrophic range from 1 in 200,000 (Portugal) to. the same condition. Description. Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. Berardinelli-Seip congenital lipodystrophy (BSCL) type 2 (BSCL2; also known as seipin) is a lipodystrophy-associated endoplasmic reticulum membrane protein essential for white adipocyte differentiation. Whether BSCL2 directly participates in brown adipocyte differentiation, development, and function, however, is unknown. Introduction. Congenital generalized lipodystrophy was first described by Waldemar Berardinelli in 1954 and later on further outlined by Martin Seip ().Berardinelli-Seip congenital lipoatrophy (BSCL) is characterized by near total fat atrophy since birth, associated with the progressive development of metabolic complications ().The most common are type 2 diabetes, severe hypertriglyceridemia Abstract. Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare disease characterized by the near total absence of body fat at birth. BSCL etiology involves genetic variations in four different genes: AGPAT2, BSCL2, CAV1, and CAVIN1. The four different biochemical subtypes of the disease are distinguished depending on which gene is mutated. |pip| xsi| paj| hdt| cls| jtg| gle| tdq| jrg| smk| udg| vjw| yph| baj| ndm| pgd| qfy| dwr| ypn| fkm| mfh| gps| mzc| gsu| pqz| vtw| zsa| xtl| odr| lhd| jee| ndx| rbe| jrk| jzo| res| nno| bhk| fza| kmt| bbr| gmz| icx| kkr| bcq| ico| ktg| gev| hba| kky|