We have reviewed all known UK cases of Smith-Lemli-Opitz syndrome. Among 49 cases with proven 7-dehydrocholesterol reductase deficiency, half had been terminated or had died in infancy. The minimum incidence is 1 in 60,000. The frequent occurrence of hypospadias may account for 71% of recognised cases being male. Important common features which emerged include short thumbs, severe photosensitiv...

Background and aimsExtensive research showed a diurnal rhythm of endogenous cholesterol synthesis, whereas recent reported no intestinal absorption in males who consumed low-fat meals. Little is known about the acute effect macronutrient consumption on metabolism, hence if meal composition may explain this absence rhythmicity absorption. Therefore, we examined high-fat, high-carbohydrate, high-...

INTRODUCTION: Vitamin D is an important molecule which plays pivotal role in overall human health and metabolism. This vitamin acts as both well hormone, thus, dual nature of this makes it one the chemicals required for health, harmonious growth, development. Recently, gaining large attention dentistry, becoming master regulator dental health. It studied that major calcium absorption bone teeth...

The Smith-Lemli-Opitz syndrome (SLOS) is a congenital birth defect syndrome caused by a deficiency of 3beta-hydroxysterol Delta(7)-reductase, the final enzyme in the cholesterol biosynthetic pathway. The patients have reduced plasma and tissue cholesterol concentrations with the accumulation of 7-dehydrocholesterol and 8-dehydrocholesterol. Bile acid synthesis is reduced and unnatural cholenoic...

The Smith-Lemli-Opitz syndrome (SLOS) is a congenital birth defect syndrome caused by a deficiency of 3 b -hydroxysterol D 7 -reductase, the final enzyme in the cholesterol biosynthetic pathway. The patients have reduced plasma and tissue cholesterol concentrations with the accumulation of 7-dehydrocholesterol and 8-dehydrocholesterol. Bile acid synthesis is reduced and unnatural cholenoic and ...

Aerobic incubation of 7-dehydrocholesterol with mouse liver microsomes in the presence of a detergent, an iron salt, and NADH or NADPH resulted in the conversion of the sterol to more polar products. In the presence of Fe(3+) or low levels of Fe(2+) the reaction was dependent upon reduced pyridine nucleotide and a microsomal enzyme system. At high levels of Fe(2+) or in the presence of Fe(2+) o...

Phospholipids and sterols are known to have multiple functions in reproductive tissue of mammals. High concentrations of the cholesterol precursor desmosterol have been described in testis, epididymis, and spermatozoa of various species. These findings and the recent discovery of some cholesterol precursors as meiosis-activating sterols suggest important functions of cholesterol precursors in f...

The synthesis of vitamin D in skin is a two-stage process that begins with the production of previtamin D after irradiation of 7-dehydrocholesterol by ultraviolet (UV) radiation. A number of personal and environmental factors control the probability of a suitable UV photon reaching a molecule of 7-dehydrocholesterol in the skin. These are astronomical factors that govern the solar zenith angle ...

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disease initially caused by mutations in the DHCR7 gene (OMIM# 602858); this gene encodes the penultimate enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol reductase (3β-hydroxysterol-Δ7-reductase; EC 1.3.1.21) [1,2]. Such mutations give rise to a catalytically defective enzyme, resulting in an inefficient conversion...