Treatment with chenodeoxycholic acid has been shown to normalize the biochemical phenotype

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An enzyme important in conversion of cholesterol to the bile acids cholic and chenodeoxycholic acid (CDCA), cerebrotendinous xanthomatosis (CTX; OMIM#213700) is an autosomal recessive childhood-to-adult onset leukodystrophy associated with deficient sterol 27-hydroxylase (CYP27A1). CTX is difficult to diagnose; for most affected individuals it is not clinically obvious at birth, although neonatal cholestatic jaundice may be a presenting sign in some infants. While symptoms of CTX may present in childhood and adolescence, the disorder is often not recognized until symptoms have progressed. A mean age of first symptom onset ranging between 14 and 19 years old and a mean delay in diagnosis ranging between 17–19 years has been reported. Symptoms in children can include diarrhea, juvenile cataracts and developmental delay. In summary, CTX is very difficult to diagnose and did not pay sufficient attention.
A simple, effective oral therapy for CTX is available in the form of Chenodeoxycholic Acid, the main bile acid deficient in CTX. Treatment with CDCA has been shown to normalize the biochemical phenotype and halt progression of disease in most cases. Generally treatment of patients with advanced neurological disease does not reverse the impairment. A recent study in a cohort of 16 CTX patients demonstrated those who began CDCA treatment after age 25 years were significantly more limited in ambulation and more cognitively impaired compared to those who started treatment earlier. Therefore it is essential to diagnose and treat CTX as early as possible. Oral Chenodeoxycholic Acid is one of the effective therapy for CTX, the disease should be treatment immediately.
Treatment with chenodeoxycholic acid(CDCA), as the mean age of CTX diagnosis is currently estimated as between 35 and 37 years old, we believe screening newborns for CTX will be the best way to achieve early identification and intervention for this disorder. Although CTX fulfills the majority of criteria required for a disorder to be screened for in newborns, there has been no suitable test available to screen newborn dried bloodspots (DBS) for CTX. Blood testing for diagnostic confirmation of CTX is routinely performed using gas chromatography–mass spectrometry (GC–MS) measurement of 5α-cholestanol which is elevated in affected individuals. A focus of our research has been to develop high-throughput amenable electrospray ionization-tandem mass spectrometry (ESI-MS/MS) based blood tests with utility to screen DBS for CTX. The common Testing equipment are gas chromatography–mass spectrometry (GC–MS) measurement and ionization-tandem mass spectrometry, it's very helpful for treatment in combination of these instruments.