Lipodystrophy: metabolic insights from a rare disorder

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REVIEW Lipodystrophy: metabolic insights from a rare disorder

Obesity, insulin resistance and their attendant complications are among the leading causes of morbidity and premature mortality today, yet we are only in the early stages of understanding the molecular pathogenesis of these aberrant phenotypes. A powerful approach has been the study of rare patients with monogenic syndromes that manifest as extreme phenotypes. For example, there are striking si...

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Congenital 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...

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Alkaptonuria: a very rare metabolic disorder.

Alkaptonuria (AKU) is a very rare autosomal recessive disorder of tyrosine metabolism in the liver due to deficiency of homogentisate 1,2 dioxygenase (HGD) activity, resulting in the accumulation of homogentisic acid (HGA). Circulating HGA pass into various tissues through-out the body, mainly in cartilage and connective tissues, where its oxidation products polymerize and deposit as a melanin-...

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Metabolic syndrome in HIV-associated lipodystrophy

Objectives The aim of our study was to describe the interaction and the overlapping features of lipodystrophy and metabolic syndrome in HIV-infected patients and verify the role of HIV viremia (viral load) on the development of metabolic abnormalities related to these conditions. Methods Cross sectional study of consecutive HIV-patients attending the Metabolic Clinic (MC) of Modena University (...

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Metabolic basis of HIV-lipodystrophy syndrome.

Human immunodeficiency virus (HIV)-lipodystrophy syndrome (HLS) is characterized by hypertriglyceridemia, low high-density lipoprotein-cholesterol, lipoatrophy, and central adiposity. We investigated fasting lipid metabolism in six men with HLS and six non-HIV-infected controls. Compared with controls, HLS patients had lower fat mass (15.9 +/- 1.3 vs. 22.3 +/- 1.7 kg, P < 0.05) but higher plasm...

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ژورنال

عنوان ژورنال: Journal of Endocrinology

سال: 2010

ISSN: 0022-0795,1479-6805

DOI: 10.1677/joe-10-0272