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The Metabolomics Core Facility focuses on targeted metabolomics (quantitation and validation) and untargeted metabolomics (discovery of metabolites).

The mission of the Metabolomics Core Facility within Department of Biochemistry at the UT Southwestern is to assist investigators with their metabolomics projects.

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Information for potential patients and enrollees for specific studies in the area of Lipodystrophy at UT Southwestern.

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Acquired: Localized Localized lipodystrophies are defined as a localized loss of subcutaneous fat from small areas or from parts of a limb. There may be single or multiple lesions. It is characterized by depressed areas corresponding to the loss of subcutaneous fat. In some cases, it may be associated with tender, painful nodules in the skin. Usually, it occurs in diabetic patients at the site of insulin injections. In some patients, at loss occurs from areas where pressure is applied

Inherited: Familial Partial Lipodystrophies, other Types Familial Partial Lipodystrophy- PPAR gamma (Peroxisome Proliferator Activated Receptor- γ) gene mutations Only about twenty patients with FPL due to heterozygous mutation in PPARG have been reported so far. It is either much less common than FPL, Dunnigan variety or is less recognized likely due to milder phenotype. We recently reported heterozygous mutation (Arg397Cys) of peroxisome proliferator-activated receptor gamma

Inherited: Neonatal Progeroid Syndrome (Wiedemann-Rautenstrauch syndrome) Neonatal progeroid syndrome (NPS), also known as Wiedemann- Rautenstrauch Syndrome, is a rare autosomal recessive disorder characterized by accelerated aging and lipodystrophy from birth. Affected children have extreme intrauterine growth retardation, poor postnatal weight gain, and have a characteristic progeroid face (triangular, old-looking face with a beak shaped or pinched nose), pseudohydrocephalus, wide

Acquired: Partial Lipodystrophy (Barraquer-Simons Syndrome) The onset of acquired partial lipodystrophy usually occurs around 8-10 years of age and is usually preceded by an episode of acute viral infection. It is rare -approximately 250 patients of various ethnic origins have been described. It is characterized by the loss of fat from the face, extending to involve the neck, shoulders, arms, forearms, thoracic region and upper abdomen occasionally extending to the groin or thighs