Genetic testing can also confirm the disease, as mutations in the AGPAT2 gene is indicative of CGL1, a mutation in the BSCL2 gene is indicative of CGL2, and mutations in the CAV1 and PTRF genes are indicative of CGL3 and CGL4 respectively. Physical diagnosis of CGL is easier, as CGL patients are recognizable from birth, due to their extreme muscular appearance, which is caused by the absence of subcutaneous fat.CGL3 patients have serum creatine kinase concentrations much higher than normal (2.5 to 10 times the normal limit). This can be used to diagnose type 3 patients and differentiate them from CGL 1 and 2 without mapping their genes. Additionally, CGL3 patients have low muscle tone when compared with other CGL patients. Treatment
Metformin is the main drug used for treatment, as it is normally used for patients with hyperglycemia. Metformin reduces appetite and improves symptoms of hepatic steatosis and polycystic ovary syndrome. Leptin can also be used to reverse insulin resistance and hepatic steatosis, to cause reduced food intake, and decrease blood glucose levels. Diet
CGL patients have to maintain a strict diet for life, as their excess appetite will cause them to overeat. Carbohydrate intake should be restricted in these patients. To avoid chylomicronemia, CGL patients with hypertriglyceridemia need to have a diet very low in fat. CGL patients also need to avoid total proteins, trans fats, and eat high amounts of soluble fiber to avoid getting high levels of cholesterol in the blood.
History
Congenital Generalized Lipodystrophy, also known as Berardinelli–Seip lipodystrophy was first described in 1954 by Berardinelli and later by Seip in 1959. The gene for type 1 CGL was identified as AGPAT2 at chromosome 9q34, and later the gene for type 2 CGL was identified as BSCL2 at chromosome 11q13. More recently, type 3 CGL was identified as a separate type of CGL, which was identified as a mutation in the CAV1 gene. Then, a separate type 4 CGL was identified as a mutation in the PTRF gene. See also
Lipodystrophy
Familial partial lipodystrophy
List of cutaneous conditions
Skin lesion
Seipin

References
Further reading
GeneReviews/NCBI/NIH/UW entry on Berardinelli-Seip Congenital Lipodystrophy


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