congenital generalised lipodystrophy

(redirected from Lawrence syndrome)

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).
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
The product is a recombinant analogue of human leptin and is claimed to be the first and only licensed treatment in Europe indicated as an adjunct to diet as a replacement therapy to treat the complications of leptin deficiency in (LD) patients with confirmed congenital generalised LD (Berardinelli-Seip syndrome) or acquired generalised LD (Lawrence syndrome) in adults and children 2 years of age and above; or with confirmed familial partial LD or acquired partial LD (Barraquer-Simons syndrome), in adults and children 12 years of age and above for whom standard treatments have failed to achieve adequate metabolic control.
Differential diagnosis in the infant include: short syndrome, neonatal progeroid syndrome, neurometabolic lysosomal storage disorder (Gaucher type 2, Krabbe disease), Russell diencephalic syndrome; in older children, Dunningan lipodistrophy, Rabson-Mendenhall syndrome, insulin-dependent diabetes mellitus; and in adults, Barraquer-Simons syndrome, AIDS, partial lipodistrophy and Lawrence syndrome (9).

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