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9 Possible Causes for 8-Dehydrocholesterol Increased

  • Hypogonadism

    RESULTS: The serum concentrations of intermediates in the cholesterol biosynthesis pathway, such as 7-dehydrocholesterol, 8-dehydrocholesterol, desmosterol, lathosterol, and[ncbi.nlm.nih.gov] […] dihydrolanosterol, were not increased.[ncbi.nlm.nih.gov]

  • Hunermann Conradi Syndrome

    Dysfunction of this enzyme leads to increased levels of 8-dehydrocholesterol and, typically, to the presence of 8(9)-cholestenol in serum.[ntvg.nl] GC/MS analysis revealed a pattern of metabolites consistent with this enzymatic defect in cholesterol biosynthesis, specifically showing increased levels of 8-dehydrocholesterol[nature.com] The diagnosis can be confirmed by finding increased plasma accumulation of precursors of sterols 8(9)-cholestenol and 8-dehydrocholesterol.[disorders.eyes.arizona.edu]

  • Smith Lemli Opitz Syndrome

    Patients show not only an increased level of 7-dehydrocholesterol in blood and tissues, but also increased 8-dehydrocholesterol because of the presence of an active delta([ncbi.nlm.nih.gov] As a function of time after intoxication, the 8-dehydrocholesterol to 7-dehydrocholesterol ratio increases, suggested that 8-dehydrocholesterol is derived from the gradual[ncbi.nlm.nih.gov] This defect causes low or low-normal plasma cholesterol levels and increased 7- and 8-dehydrocholesterol (DHC) levels.[ncbi.nlm.nih.gov]

  • Exfoliative Ichthyosis

    CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in[nectarmutation.org]

  • Chondrodysplasia Punctata

    The increased level of 8-dehydrocholesterol (42.2 micromol/l, controls 1) and 7-dehydrocholesterol (25.5 micromol/l, controls 1) recognised with GC/MS suggested an endogenous[ncbi.nlm.nih.gov] CDPX2 results from mutations in EBP (emopamil binding protein), and presents with increased levels of sterol precursors 8(9)-cholesterol and 8-dehydrocholesterol.[ncbi.nlm.nih.gov] […] of levels of the cholesterol precursors, cholest-8(9)-en-3beta-ol and 8-dehydrocholesterol, in plasma, soft tissues or cartilages have been considered diagnostic of CDPX2[clinicaladvisor.com]

  • Rhizomelic Chondrodysplasia Punctata Type 2

    This group identified five CDPX2 patients with increased tissue 8-dehydrocholesterol and cholesta-8(9)-en-3β-ol, consistent with a deficiency of 3β-hydroxysterol Δ8,Δ7-isomerase[humpath.com]

  • Autosomal Dominant Chondrodysplasia Punctata

    The diagnosis can be confirmed by finding increased plasma accumulation of precursors of sterols 8(9)-cholestenol and 8-dehydrocholesterol.[disorders.eyes.arizona.edu] […] of levels of the cholesterol precursors, cholest-8(9)-en-3beta-ol and 8-dehydrocholesterol, in plasma, soft tissues or cartilages have been considered diagnostic of CDPX2[dermatologyadvisor.com] Biochemical studies: Since this disease is caused by mutations of protein responsible for cholesterol synthesis, decrease of levels of cholesterol and a remarkable increase[dermatologyadvisor.com]

  • Mediterranean Macrothrombocytopenia

    Compared with control subjects (n 8), the sitosterolemic subject had an increased absorption of 22-dehydrocholesterol (71.5% vs. 43.8 /- 11.4%, mean /- SD), C-26 sterol (80.6%[jci.org]

  • Ichthyosis - Oral and Digital Anomalies Syndrome

    Patients have decreased concentrations of cholesterol in plasma and increased concentrations of the precursor 7-dehydrocholesterol (cholesta-5,7-dien-3β-ol; 7-DHC) and its[clinchem.aaccjnls.org] […] isomer 8-dehydrocholesterol (cholesta-5,8-dien-3β-ol; 8-DHC) in plasma, erythrocytes, cultured skin fibroblasts, amniotic fluid, and various tissues ( 4 )( 5 )( 6 )( 7 )([clinchem.aaccjnls.org]

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