Congenital generalized lipodystrophy with insulin-resistant diabetes

@article{Kodama2004CongenitalGL,
  title={Congenital generalized lipodystrophy with insulin-resistant diabetes},
  author={S. Kodama and M. Kasuga and A. Seki and M. Ninomiya and T. Sakurai and Y. Morishita and M. Matsuo and T. Matsuo},
  journal={European Journal of Pediatrics},
  year={2004},
  volume={127},
  pages={111-119}
}
Hyperglycemia, glucose intolerance, hyperinsulinemia and resistance to exogenous insulin were found in a 10-year-old Japanese boy diagnosed as having congenital generalized lipodystrophy.Studies on insulin receptors of circulating mononuclear leucocytes indicated that insulin-resistant diabetes combined with congenital generalized lipodystrophy may be due to disturbance of insulin binding to membrane receptors. No insulin-binding antibody or antibody that impairs insulin-receptor binding was… Expand
9 Citations
Insulin Resistance in a Boy with Congenital Generalized Lipodystrophy
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Results from euglycemic glucose clamp study showed decreases in both insulin sensitivity and responsiveness, which may result from a defect at the rate-limiting step in the postbinding process of insulin action, presumably a defect in the glucose transport system in muscle tissues. Expand
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The studies demonstrate the independent benefits of caloric and dietary-fat restriction in the treatment of LD, and that fat restriction lowered plasma triglyceride by its effect on the VLDL-TG production rate. Expand
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Understanding the pathophysiology of dyslipidemia in these rare disorders of lipodystrophies may offer insights into the normal role of adipocytes in maintaining metabolic homeostasis, and its disturbances in common forms of obesity. Expand
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Delineation of the human molecular genetic basis of two distinct forms of inherited lipodystrophy may have relevance for the common insulin resistance syndrome and for acquired lipody Strophy syndromes. Expand
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Therapeutic management of dyslipidemia in patients with lipodystrophy is primarily based on specific approaches using recombinant leptin therapy, and preclinical studies suggest a potential efficacy of thiazolidinediones that remains to be assessed in dedicated clinical trials. Expand
The New Insulins
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The use of highly purified insulins for short courses of treatment is therefore mandatory, particularly in patients with infections, and should be used in all newly diagnosed insulin-requiring diabetics. Expand
Berardinelli-Seip congenital lipodystrophy
TLDR
Berardinelli-Seip congenital lipodystrophy is a very rare autosomal recessive disorder determining the triad of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features associated with insulin resistance resulting in clinically overt diabetes mellitus with onset during the second decade. Expand
Some aspects of the genetics and etiology of spontaneous diabetes mellitus
  • E. Pimentel
  • Biology, Medicine
  • Acta diabetologia latina
  • 2007
TLDR
There is as yet no conclusive evidence concerning the possibility that exogenous and/or endogenous viruses may play a role in the etiology of human DM, but the possibility of congenital transmission of a predisposition to DM through the action of some unknown epigenetic mechanisms has been suggested. Expand
Expert Opinion on Therapeutic Patents

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