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Genetically-inherited lipid metabolic disorder
Sitosterolemia, also known as phytosterolemia, is a rare autosomal recessively inherited lipid metabolic disorder. It is characterized by hyperabsorption
Sitosterolemia
Family of protein complexes
disorder, sitosterolemia. The molecular mechanisms regulating the absorption of dietary sterols in the body are poorly understood, and as sitosterolemia is a
Sterolin
Protein-coding gene in the species Homo sapiens
sitosterolemia. A loss-of-function mutation in ABCG8 impairs the removal of sterols from cells and, in the homozygous case, leads to sitosterolemia.
ABCG8
Deposit of cholesterol within bodily tissue
hyperlipidemia, chronic biliary tract obstruction, primary biliary cirrhosis, sitosterolemia and the rare metabolic disease cerebrotendineous xanthomatosis. Palmar
Xanthoma
Protein-coding gene in the species Homo sapiens
accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. Click on genes, proteins and metabolites below to link to respective
ABCG5
Medication used to treat high cholesterol
hypercholesterolemia, in combination with specific statins Homozygous sitosterolemia A 2018 review found that ezetimibe used as sole treatment slightly lowered
Ezetimibe
Genetic disorder characterized by high cholesterol levels
Lipid levels and the presence of xanthomata can confirm the diagnosis. Sitosterolemia and cerebrotendineous xanthomatosis are two rare conditions that can
Familial_hypercholesterolemia
Ochronosis Osteoma cutis Palmar xanthoma Phenylketonuria Phytosterolemia (sitosterolemia) Porphyria cutanea tarda Primary cutaneous amyloidosis Primary systemic
List_of_skin_conditions
Chemical compound
indicative of higher risk, as indicated by genetic disorders, such as sitosterolemia. Study results of serum levels have been conflicting. A 2012 meta-analysis
Campesterol
Class of chemical compounds
certain Unilever products under the brand name Becel/Flora. Stanol ester Sitosterolemia Lampe MA, Burlingame AL, Whitney J, Williams ML, Brown BE, Roitman E
Sterol_ester
Biological synthesis and degradation of lipids
disorders of lipid metabolism. Rarer disorders of lipid metabolism include sitosterolemia, Wolman's disease, Refsum's disease, and cerebrotendinous xanthomatosis
Lipid_metabolism
Human chromosome
sneeze reflex Primary hyperoxaluria Primary pulmonary hypertension Sitosterolemia (knockout of either ABCG5 or ABCG8) Sensenbrenner syndrome Synesthesia
Chromosome_2
Genetic bile acid metabolism disorder
xanthomatosis was formerly known as "Van Bogaert–Scherer–Epstein syndrome". Sitosterolemia List of cutaneous conditions "cerebrotendinous xanthomatosis". Monarch
Cerebrotendinous xanthomatosis
Cerebrotendinous_xanthomatosis
Mammalian protein found in Homo sapiens
"Deficient ileal 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in sitosterolemia: sitosterol is not a feedback inhibitor of intestinal cholesterol biosynthesis"
HMG-CoA_reductase
Class of steroids derived from plants
premature atherosclerosis and resulting CVD observed in patients with sitosterolemia are attributable to severe hypercholesterolemia in their childhood.
Phytosterol
Protein-coding gene in humans
"Deficient ileal 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in sitosterolemia: sitosterol is not a feedback inhibitor of intestinal cholesterol biosynthesis"
CDKL5
Sinus node disease and myopia Sipple syndrome Sirenomelia Sitophobia Sitosterolemia Situs inversus totalis with cystic dysplasia of kidneys and pancreas
List_of_diseases_(S)
1023/A:1024485117095. PMID 12889659. Renner C, Connor WE, Steiner RD (2016). "Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia". Clin
Metab-L
Simpson-Golabi-Behmel syndrome, type 2; 300209; OFD1 Sitosterolemia; 210250; ABCG5 Sitosterolemia; 210250; ABCG8 Sjögren–Larsson syndrome; 270200; ALDH3A2
List_of_OMIM_disorder_codes
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