How to diagnose a lipodystrophy syndrome

Primary Intestinal Follicular Lymphoma and Premature Atherosclerosis in a Japanese Diabetic Patient with Atypical Familial Partial Lipodystrophy

“…Many cases of FPL of European origin have been reported to be FPLD. FPL is often underdiagnosed due to the lack of detection of lipodystrophy (6)(7)(8). Systematic analyses of adipose tissue using dual energy X-ray absorptiometry (DEXA) or magnetic resonance imaging (MRI) scans are needed for diagnosis in some cases of FPL.…”

Mogat1 deletion does not ameliorate hepatic steatosis in lipodystrophic (Agpat2−/−) or obese (ob/ob) mice

“…There are currently three mammalian isoforms of monoacylglycerol O -acyltransferase ( Mogat isoforms 1-3) 6 cloned from rodents and humans encoded from different genes (15)(16)(17). While Mogat1 and Mogat2 are present in both humans and rodents, expression of Mogat3 has only been observed in rats and in humans, but not in mice, where it is shown to be a pseudogene ( 18 ).…”

Hepatic Gluconeogenesis Is Enhanced by Phosphatidic Acid Which Remains Uninhibited by Insulin in Lipodystrophic Agpat2−/− Mice

“…We have previously reported that AGPAT2 mutations result in autosomal recessive congenital generalized lipodystrophy type 1 (CGL1) (4). Patients with CGL1 are born without any detectable white adipose tissue but still develop severe insulin resistance (IR) and type 2 diabetes in their first decade of life and, in some, the IR is so severe that it manifests as acanthosis nigricans, hypertriglyceridemia, hepatic steatosis, and type 2 diabetes (5,6).…”