Malar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them
Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare, autosomal recessive, neurodegenerative lipid storage disease with multisystemic involvement.1 The incidence of CTX is estimated to be between 1/72000-1/150000, and prevalence is 3/100000-5/100000.2 CTX disease occurs due to mutations in the CYP27A1 gene on chromosome 2, which causes defects in synthesizing the sterol 27-hydroxylase enzyme that plays a role in mitochondrial cholesterol metabolism and bile acid synthesis.1,3 This enzyme deficiency causes a decrease in the production of cholic acid and chenodeoxycholic acid and an increase in the production of chol...
Source: Journal of Clinical Lipidology - February 28, 2024 Category: Lipidology Authors: Banu Kad ıoğlu Yılmaz, Halil Çelik Tags: Original Research Source Type: research
Effect of sacubitril/valsartan on lipid metabolism in patients with chronic kidney disease combined with chronic heart failure: a retrospective study
Dyslipidemia is significantly more common in those with concurrent chronic kidney disease (CKD) and chronic heart failure (CHF). Sacubitril/valsartan has showcased its influence on both cardiac and renal funct... (Source: Lipids in Health and Disease)
Source: Lipids in Health and Disease - February 28, 2024 Category: Lipidology Authors: Manzhi Li, Ao Zhong, Yifan Tang, Jinnuo Yu, Mengmeng Wu, Karthick Kumaran Munisamy Selvam and Dong Sun Tags: Research Source Type: research
