xanthomatosis


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Related to xanthomatosis: cerebrotendinous xanthomatosis

xanthomatosis

[‚zan‚thō·mə′tō·səs]
(medicine)
A condition marked by the deposit of a yellowish or orange lipoid material in the reticuloendothelial cells, the skin, and the internal organs.
References in periodicals archive ?
Reports of xanthomatosis in birds include xanthomatosis in commercial chickens attributed to fat-related toxic hydrocarbons in feed (14); oral xanthoma in a budgerigar (Melopsittacus undulatus) (15); xanthomas overlying the carporadial-carpoulnar joint (16) and leg (17) of racing pigeons (Columba livia); a case series of xanthomas in 8 budgerigars and 1 rose-breasted cockatoo (Cacatua roseicapilla) (18); periarticular xanthomatosis in an American kestrel (Falco sparverius) (19); and xanthomatosis of the liver in an Amazon parrot.
DISCUSSION: Cerebrotendinous xanthomatosis is an autosomal recessive lipid storage disorder caused by mutations in CYP27A gene, located in 2q33-qter, which codes for hepatic mitochondrial sterol 27-hydroxylase, involved in the normal biosynthesis of bile acids.
The method contributes to the diagnosis of some rare genetic diseases like cerebrotendinous xanthomatosis, Niemann-Pick type C disease, and Smith-LemliOpitz-Syndrome in a single run.
Papular xanthoma is a distinct type of normolipernic xanthomatosis that was first described in 1980, Dr.
Involvement of the temporal bone in hyperlipidemic xanthomatosis.
com 1,2,3,4,5,6,7,8; Spanish materials, provides direct services through 158 affiliate programs CEREBR00CULORENAL DYSTROPHY See: Lowe Syndrome CEREBROSIDE LIPIDOSIS See: Gaucher Disease CEREBROTENDINOUS See: Xanthomatosis Leukodystrophy; Tay-Sachs Disease CHAGAS' DISEASE See: Autoimmune Disorders CHALASODERMIA See: Connective Tissue Disorders CHANARIN-DORFMAN SYNDROME See: Ichthyosis CHANDS ASSOCIATION See: Ectodermal Dysplasias CHARCOT-MARIE-TOOTH DISEASE See also: Ataxia; Muscular Dystrophy; Myelin Disorders Charcot-Marie-Tooth Association 601 Upland Ave.
We have previously received a patent with allowed claims for reducing LDL cholesterol, apolipoprotein-B and triglycerides in patients suffering from atherosclerosis, arteriosclerosis and xanthomatosis, a very serious form of hardening of the arteries.
Localized morphea, xanthomatosis and primary biliary cirrhosis.
In vitro characterization of a monoclonal IgG from a patient with planar xanthomatosis.
The differential diagnosis included inflammatory arthritidies (such as rheumatoid arthritis or psoriatic arthritis), gouty arthritis, amyloidosis, pigmented villonodular synovitis, and xanthomatosis.