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Cerebrotendinous xanthomatosis: a literature review and case study.
Front Cardiovasc Med
December 2024
Department of Cardiology, INSERM UMR 1295, Toulouse University Hospital, Toulouse, France.
Cerebrotendinous xanthomatosis (CTX) is a rare but treatable inherited neurometabolic disorder that can lead to severe sequelae if left untreated. Chenodeoxycholic acid is a safe and effective treatment for CTX. Early diagnosis is essential to improve patient outcomes.
View Article and Find Full Text PDFThe clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review.
Orphanet J Rare Dis
December 2024
Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands.
Background: Bile acid synthesis defects (BASDs) can be severely disabling involving the liver and nervous system, potentially due to elevated levels of toxic C-bile acid intermediates. Cholic acid (CA) supplementation is hypothesized to decrease bile acid production, stimulate bile secretion and -flow, and slowing down disease progression. This systematic review assesses the clinical and biochemical effectiveness, and safety of CA in BASDs patients.
View Article and Find Full Text PDFChallenges in the identification and quantification of an unknown impurity in chenodeoxycholic acid drug substance.
Eur J Pharm Sci
December 2024
Department of Pharmacy and Clinical Pharmacology, Amsterdam UMC, Meibergdreef 9 1105 AZ, Amsterdam, The Netherlands; Platform Medicine for Society, Amsterdam UMC, Meibergdreef 9 1105 AZ, Amsterdam, The Netherlands.
In 2018 the Amsterdam University Medical Centre decided to prepare chenodeoxycholic acid (CDCA) capsules (also known as pharmacy compounding) for patients with the genetic metabolic disease cerebrotendinous xanthomatosis (CTX) when the product with a marketing authorization was commercially unavailable for patients. However, after reanalysis, unknown impurities were identified in the CDCA active pharmaceutical ingredient (API) using thin-layer chromatography from the European Pharmacopoeia (Ph.Eur.
View Article and Find Full Text PDFPolyneuropathy in Cerebrotendinous Xanthomatosis: Diagnostic Challenges and Potential for Therapeutic Intervention.
Brain Sci
November 2024
Division of Neurology, Department of Clinical Medicine, Federal University of Ceará, Fortaleza 60430-372, Ceara, Brazil.
Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disorder caused by mutations in the gene, leading to cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is an underrecognized feature with considerable variability in clinical presentation and neurophysiological findings in CTX. This review assesses the prevalence, clinical manifestations, and diagnostic methodologies of polyneuropathy in CTX, exploring its underlying mechanisms and potential treatment outcomes.
View Article and Find Full Text PDFA sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis, and Smith-Lemli-Opitz syndrome.
J Lipid Res
November 2024
Lipid Clinic, Oslo University Hospital, Aker, Oslo, Norway; Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.
Disease-specific sterols accumulate in the blood of patients with several rare lipid disorders. Biochemical measurement of these sterols is important for correct diagnosis and sometimes monitoring of treatment. Existing methods to measure sterols in blood, particularly plant sterols, are often laborious and time consuming.
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