Cerebrotendinous xanthomatosis (CTX) is a rare inborn disorder of sterol storage with autosomal recessive inheritance and a variable clinical presentation. [ncbi.nlm.nih.gov]

• Aspiration

  The chenodeoxycholic acid concentration of seven samples of aspirated cyst fluid ranged from 42 to 94 mumol/L. [ncbi.nlm.nih.gov]

• Diarrhea

  Check with your health care professional if any of the following side effects continue or are bothersome or if you have any questions about them: More Common Diarrhea Less Common Abdominal or stomach pain acid or sour stomach belching bloated cramps difficulty [drugs.com]

  […] dissolve gallstones.Chenodeoxycholic acid can be used in the treatment of cerebrotendineous xanthomatosis.The Australian biotechnology company Giaconda has tested a treatment for Hepatitis C infection that combines chenodeoxycholic acid with bezafibrate.As diarrhea [en.wikipedia.org]

  Diarrhea occurred significantly more often in group B than in group A (p less than 0.001) and was the main reason for withdrawal of randomized medication. Severe adverse effects of the bile acids were not observed. [ncbi.nlm.nih.gov]

  Call your doctor at once if you have: worsening or no improvement of your gallstone symptoms; severe or ongoing diarrhea; or liver problems --loss of appetite, upper stomach pain, tiredness, easy bruising or bleeding, dark urine, clay-colored stools, [peacehealth.org]

  No side effects were observed with UDCA, while with CDCA diarrhea occurred in 28% and a transient increase in SGOT in a single patient. 1 patient on UDCA required emergency cholecystectomy for acute cholecystitis. [karger.com]

• Delayed Gastric Emptying

  Compared with colesevelam, CDCA colesevelam and placebo, respectively, CDCA increased glucagon and delayed gastric emptying in both groups. CONCLUSIONS: CDCA increased GLP-1 and glucagon secretion, and delayed gastric emptying. [ncbi.nlm.nih.gov]

• Pyramidal Tract Signs

  After treatment for one year, the serum levels of these sterols were decreased and some neurologic improvements in the pyramidal tract signs and cerebellar signs were noted. The electroencephalographic findings were markedly changed and normalized. [ncbi.nlm.nih.gov]

  Before treatment, all subjects were symptomatic, with Achilles tendon xanthomas (in 15 of 17), cataracts (in 12 of 17), dementia (in 13 of 17), pyramidal-tract signs (in all 17), cerebellar dysfunction (in 13 of 17), mild peripheral neuropathy (in 7 of [doi.org]

• Polyneuropathy

  Polyneuropathy was predominantly axonal (76.9 % of patients) and generally mild. No correlation was found between its presence and clinical or biochemical data. [ncbi.nlm.nih.gov]

• Hyperactivity

  We describe two siblings with an early psychiatric presentation of CTX-associated attention-deficit/hyperactivity disorder and oppositional defiant disorder, also associated with a mild intellectual disability and major behavioral impairments. [ncbi.nlm.nih.gov]

We present a two-week old girl who was diagnosed with cerebrotendinous xanthomatosis (CTX), an inborn error of bile acid synthesis, after a diagnostic workup for convulsions which were shown to be caused by a parechovirus encephalitis. [ncbi.nlm.nih.gov]

[…] after ursodeoxycholic acid treatment. [ncbi.nlm.nih.gov]

In PSC patients with less favorable prognosis, baseline C4 levels were drastically suppressed and did not further decline. [ncbi.nlm.nih.gov]

Skin biopsy was performed and histological examination suggested a drug etiology. [ncbi.nlm.nih.gov]

Epidemiological and experimental studies suggest that bile acids may play a role in CRC etiology. [ncbi.nlm.nih.gov]

RESULTS: We observed that pathophysiological levels ( or 150 micromolar) of CDCA competitively inhibited 3H-fMLP binding to human monocytes, FPR and FPRL1 transfected cells. [ncbi.nlm.nih.gov]

The pathophysiological implications of bile acids at the macromolecular level is highlighted by a chapter on the influence of bile salts on the activity of various enzymes. [books.google.com]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Bile acids are formed in the liver from cholesterol, conjugated primarily to glycine and taurine, stored and concentrated in [mayomedicallaboratories.com]

Distinctly from CDCA, MG132 prevented SHP and an exogenous FXR agonist, GW4064 from reducing HIF-1α protein. Furthermore a FXR antagonist, guggulsterone failed to prevent CDCA from decreasing HIF-1α protein. [ncbi.nlm.nih.gov]