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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.
Familial Partial Lipodystrophy, Dunnigan Type Autosomal dominant is the manner of inheritance of this condition 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 ...
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 .
Numerous genetic disorders are caused by errors in fatty acid metabolism.These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types.
Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders. [1] In 1993, a genetic polymorphism within lipomas was localized to chromosome 12q15 , where the HMGIC gene encodes the high-mobility-group protein isoform I-C. [ 2 ] This is one of the most commonly found mutations in solitary ...
Both the familial type and Fish-eye disease are autosomal recessive disorders caused by mutations of the LCAT gene located on chromosome 16q22.1, which is the long (q) arm of chromosome 16 a position 22.1. [7] Both diseases are very rare with ~70 reported cases of familial LCAT deficiency [9] and ~30 cases of fish-eye disease. [10]
Meyer L, Hadjadj S, Guerci B, Delbachian I, Ziegler O, Drouin P (1998). "Lipoatrophic diabetes mellitus treated by continuous subcutaneous insulin infusion". Diabetes Metab. 24 (6): 544– 6. PMID 9932222
Congenital generalized lipodystrophy, also known as Berardinelli–Seip lipodystrophy was first described in 1954 by Berardinelli [18] and later by Seip in 1959. [19] The gene for type 1 CGL was identified as AGPAT2 at chromosome 9q34, [20] and later the gene for type 2 CGL was identified as BSCL2 at chromosome 11q13. [21]