Phenotypic and Genetic Heterogeneity in Congenital Generalized Lipodystrophy
نویسندگان
چکیده
منابع مشابه
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Recently, mutations in 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) and Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) genes were reported in pedigrees linked to chromosomes 9q34 and 11q13, respectively. There are limited data re...
متن کاملCongenital generalized lipodystrophy.
Clinical features of congenital generalized lipodystrophy, a rare disorder, first described by Zeigler include loss of subcutaneous fat, hepatomegaly, increased bone growth, hyperlipaemia and, later, diabetes. The inheritance is probably autosomal recessive. Generalized lipodystrophy may involve the diencephalon. A probable defect in the hypothalamus may lead to increased levels of hypothalamic...
متن کامل[Congenital generalized lipodystrophy].
OBJECTIVE To present the major clinical and biochemical characteristics of congenital generalized lipodystrophy. DESCRIPTION Eight infants with congenital generalized lipodystrophy were identified at the Endocrine and Nutritional Pediatric Disease Outpatient Clinics at Hospital de Clínicas, Universidade Federal de Minas Gerais (UFMG). Clinical manifestations common to all patients included mu...
متن کاملCongenital Generalized Lipodystrophy: A Multisystemic Metabolic Disorder
Loss of fatty tissue occurring in a partial or generalized distribution is called as lipodystrophy. Generalized lipodystrophy may be congenital or acquired in nature. Congenital generalized lipodystrophy or Berardinelli-Seip syndrome is a rare autosomal recessive multisystem disorder characterized by the near absence of subcutaneous and visceral adipose tissue from birth or early infancy with s...
متن کاملCardiac Manifestations of Congenital Generalized Lipodystrophy
IN BRIEF Congenital lipodystrophy is a rare genetic disorder characterized by a near-complete absence of fat cells, hypoleptinemia leading to a voracious appetite, and marked insulin resistance. This article focuses on the known cardiovascular manifestations of patients with congenital lipodystrophy, including cardiomyopathy, cardiac arrhythmias, and accelerated atherosclerosis arising from a m...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2003
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2003-030855