congenital generalised lipodystrophy

(redirected from generalised lipodystrophy)

congenital generalised lipodystrophy

A rare autosomal recessive disorder characterised by extreme paucity of adipose tissue from birth and early onset of metabolic complications related to insulin resistance. It has been clinically divided into 3 types, each of which is caused by a different mutation.
 
Molecular pathology
CGL 1—AGPAT2  (acylglycerol 3-phosphate-O-acyltransferase 2);
CGL 2—BSCL2 (Berardinelli Seip Congenital Lipodystrophy 2);
CGL 3—CAV1 (Caveolin-1).
References in periodicals archive ?
Roelofs et al., "Adipose specific disruption of seipin causes early-onset generalised lipodystrophy and altered fuel utilisation without severe metabolic disease," Molecular Metabolism, vol.
Echocardiographic assessment of cardiac function and morphology in patients with generalised lipodystrophy. Eur J Pediatr 1985;144:355-359.
The product is an orphan drug product to treat complications of leptin deficiency in patients with generalised lipodystrophy. It is a recombinant human leptin analogue indicated as an adjunct to diet as replacement therapy to treat the complications of leptin deficiency in patients with congenital or acquired generalised lipodystrophy.
The causal gene 'AG-PAT2' which is involved in the synthesis of phosphatidic acid and triglycerides, was removed in the mice--resulting in rodents with generalised lipodystrophy.
The causal gene 'AGPAT2' which is involved in the synthesis of phosphatidic acid and triglycerides, was removed in the mice-resulting in rodents with generalised lipodystrophy.
The firm stated that a version of Leptin has recently been approved in the United States for treating generalised lipodystrophy and also in Japan.
Medicine company AstraZeneca (NYSE:AZN) revealed on Tuesday the receipt of approval from the US Food and Drug Administration (FDA) for orphan drug Myalept for treating leptin deficiency in patients with congenital or acquired generalised lipodystrophy.
The company added that Myalept (metreleptin for injection) is a recombinant human leptin analog indicated as an adjunct to diet as replacement therapy to treat the complications of leptin deficiency in patients with congenital or acquired generalised lipodystrophy.

Full browser ?