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Endocrinology. Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. [1][2] The medical condition is characterized by abnormal or degenerative conditions of the body's adipose tissue. A more specific term, lipoatrophy (from Greek lipo 'fat' and dystrophy ...
Acquired generalized lipodystrophy (AGL), also known as Lawrence syndrome[1] and Lawrence–Seip syndrome, [1] is a rare skin condition that appears during childhood or adolescence, characterized by fat loss affecting large areas of the body, particularly the face, arms, and legs. [2]: 496 There are four types of lipodystrophy based on its ...
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome ...
Familial partial lipodystrophy, also known as Köbberling–Dunnigan syndrome, [2] is a rare genetic metabolic condition characterized by the loss of subcutaneous fat. [3]: 495. FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso. The upper section of the body, face, neck ...
Fatty-acid metabolism disorders result when both parents of the diagnosed subject are carriers of a defective gene. This is known as an autosomal recessive disorder. Two parts of a recessive gene are required to activate the disease. If only one part of the gene is present then the individual is only a carrier and shows no symptoms of the disease.
Congenital generalized lipodystrophy (also known as Berardinelli–Seip lipodystrophy) is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. [2] It is a type of lipodystrophy disorder where the magnitude of fat loss determines the severity of metabolic complications. [3]
Dunnigan-type familial partial lipodystrophy, also known as FPLD Type II and abbreviated as (FPLD2), is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the extremities, trunk, and gluteal region. FPLD recapitulates the main metabolic attributes of the insulin resistance syndrome, including central ...
Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by failure of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body.