Results 11 to 20 of about 2,812 (203)

Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis. [PDF]

J Inherit Metab Dis
ABSTRACT Chenodeoxycholic acid (CDCA) is an essential drug for patients with rare metabolic disease cerebrotendinous xanthomatosis (CTX). To ensure continuation of treatment, the Amsterdam UMC hospital pharmacy developed pharmacy compounded CDCA capsules when the authorized CDCA capsules were no longer available for Dutch patients.
Bouwhuis N, Majait S, Polak Y, de Jong A, Jacobs BAW, Vaz FM, Leen WG, Kemper EM, Swart EL, Hollak CEM.   +9 more
europepmc   +2 more sources

FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy. [PDF]

Health Sci Rep
ABSTRACT Background and Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene, leading to deficient sterol 27‐hydroxylase activity. This enzyme is critical for bile acid synthesis, and its dysfunction results in reduced chenodeoxycholic acid (CDCA) levels and subsequent accumulation of ...
Jalal L, Basaria AAA, Yokolo H.
europepmc   +2 more sources

Cerebrotendinous Xanthomatosis: A Clinical Series Illustrating the Radiological Findings

European Medical Journal Neurology, 2023
Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder that occurs due to defective bile acid biosynthesis, causing unusual cholesterol and cholestanol deposition in multiple soft tissues.
Shubham Saini, Neha Bagri
doaj   +1 more source

Achilles swelling and ataxia in an adolescent: A case report of cerebrotendinous xanthomatosis

Radiology Case Reports, 2022
Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease characterized by a bile acid metabolic problem that causes cholesterol metabolites to accumulate in various organs. There are 2 types of CTX: traditional and spinal.
Hind Sahli, MD, Jihane El. Mandour, MD, Jihad Boularab, MD, Issam En-nafaa, PhD,MD, Jamal El. Fenni, PhD,MD, Aziz Hommadi, PhD,MD   +5 more
doaj   +1 more source

Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment

Frontiers in Neurology, 2022
Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene.
Paulo Ribeiro Nóbrega, Paulo Ribeiro Nóbrega, Anderson Moura Bernardes, Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, David Augusto Batista Sá Araújo, Vitor Carneiro de Vasconcelos Gama, Helena Fussiger, Helena Fussiger, Carolina de Figueiredo Santos, Carolina de Figueiredo Santos, Daniel Aguiar Dias, André Luíz Santos Pessoa, André Luíz Santos Pessoa, Wladimir Bocca Vieira de Rezende Pinto, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Paulo Victor Sgobbi de Souza, Pedro Braga-Neto, Pedro Braga-Neto   +20 more
doaj   +1 more source

Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment. [PDF]

Clin Genet
Cerebrotendinous xanthomatosis is due to biallelic pathogenic variants in CYP27A1. We report a new patient and his good neurocognitive outcome on the chenodeoxycholic acid treatment despite therapy starting at the age of 34 years. This highlights the importance of recognizing treatable inherited metabolic diseases at any age.
Sultan R, Villa-Lopez M, Hung C, McCabe M, Suchowersky O, Urlacher J, Mercimek-Andrews S.   +6 more
europepmc   +2 more sources

Information Theory Analysis of CTX Shows Consistent Clinical Presentation. [PDF]

J Inherit Metab Dis
ABSTRACT Cerebrotendinous xanthomatosis (CTX) is a rare, metabolic disorder caused by pathogenic variants in CYP27A1. The classic clinical presentation includes infantile‐onset chronic diarrhea, juvenile‐onset bilateral cataracts, with development of tendon xanthomas and progressive neurological dysfunction.
Hanson J, Bonnen PE.
europepmc   +2 more sources

Cerebrotendinous Xanthomatosis: A Reversible Rarity if Caught on Time [PDF]

Indian Dermatology Online Journal
Parag Suresh, Prabin P. Dev, Niti Khunger, Shruti Sharma   +3 more
doaj   +2 more sources

Cerebrotendinous xanthomatosis

Current Opinion in Lipidology, 2013
Cerebrotendinous xanthomatosis (CTX) is a rare neurological disease characterized by accumulation of cholesterol and cholestanol in brain and tendons caused by a mutation in the sterol 27-hydroxylase gene (CYP27A1). The mechanism behind the accumulation of cholestanol in the brain was recently clarified and a role of 27-hydroxycholesterol as a ...
Partha Pratim Halder, Malabika Biswas, Apurba Ghosh   +2 more
  +8 more sources

Adult-Onset Treatable Leukodystrophy: Cerebrotendinous Xanthomatosis

Neuropsychiatric Investigation, 2022
Cerebrotendinous xanthomatosis is a leukodystrophy resulting from sterol 27-hydroxylase enzyme deficiency caused by CYP27A1 gene mutations. It is characterized by diarrhea and cataract in children, xanthomas in adolescents, and progressive neurologic ...
Gülçin Benbir Şenel, Hikmet Abbaszade, Şeyma Tekgül, Nazlı Başak, Hülya Apaydın   +4 more
doaj   +1 more source