Congenital Lipodystrophie of Berardinelli-Seip
The congenital lipodystrophie of Berardinelli-Seip is often recognized very early and with the birth.
The absence of adipocyte functional leads to the storage of the lipids in all fabrics including muscular and hepatic fabrics. The touched people develop a resistance to insulin and once on four a diabetes will occur before the twenty years age.
The hepatic attack leads to the cirrhosis at all the people. Muscular hypertrophy is also usual and a cardiac hypertrophy leading to a cardiac failure responsible for the mortality of this disease.
Sources
- Orphanet Encyclopedia * Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 269700 * GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005]
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