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 ?
to divest Myalept (metreleptin for injection), an orphan product that is indicated to treat complications of leptin deficiency in patients with generalised lipodystrophy.
Myalept is the first and only product approved in the US for the treatment of generalised lipodystrophy and it has orphan drug designation in the US, EU, and Japan.
Luke Miels, Executive Vice President, Global Product and Portfolio Strategy, AstraZeneca, said: Generalised lipodystrophy is a rare condition with significant unmet medical need that can impact every aspect of a patient s health.
AstraZeneca today announced the US Food and Drug Administration (FDA) approved orphan drug MYALEPT (metreleptin for injection), which is indicated as an adjunct to diet as replacement therapy for the treatment of complications of leptin deficiency in patients with congenital or acquired generalised lipodystrophy.
Generalised lipodystrophy is characterised by widespread loss of fat tissue under the skin.
MYALEPT is not indicated for use in patients with HIV-related lipodystrophy or for use in patients with metabolic disease, including diabetes mellitus and hypertriglyceridaemia, without concurrent evidence of congenital or acquired generalised lipodystrophy.

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