Glutaric acidemia type II (GA II), also known as multiple acyl-CoA dehydrogenase deficiency, is an auto-somal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GA. with novel electron transfer flavoprotein (ETF)-A mutations in a 2-year-old female with thalassemia minor. The patient developed an episode of hypoglycemia and hypotonicity on the postnatal first day. Laboratory investigations revealed elevations of multiple acyl carnitines indicating glutaric acidemia type II in newborn screening analysis. Urinary organic acids were evaluated for the confirmation and revealed a high glutaric acid excretion. Genetic analysis revealed two novel mutations in the ETF-A gene, which are considered to be compound heterozygote. At the 8 mo of life ketone therapy was added, which significantly increased the neuromotor development. The patient had been closely followed for two years with carnitine, riboflavin, coenzyme Q10, and ketone supplementation in addition to a high carbohydrate diet. Although the patient had comorbidity like thalassemia minor, her neuromotor development was normal for her age and had no major health problems. This specific case expands the previously reported spectrum of this disease.

Objectives: In this study, the aim is to provide a more detailed understanding of vitamin D metabolism by evaluating the correlation between 1,25-dihydroxyvitamin D (1,25(OH)2D) and 25-hydroxyvitamin D (25(OH)D) according to the variations in measurement methods and clinical conditions. Methods: We searched PubMed, Embase, and Web of Science for studies reporting correlation results between 1,25(OH)2D and 25(OH)D. We performed a meta-analysis based on the correlation results of 1,25(OH)2D and 25(OH)D in different clinical conditions. We included a total of 63 studies and our laboratory’s results in the meta-analysis. The studies were categorized into high-quality methods group (HQMG), medium-quality methods group (MQMG), and low-quality methods group (LQMG) based on the 25(OH)D and 1,25(OH)2D measurement. Results: In the healthy, renal disease, and other disease groups, the highest correlation values were observed in the studies categorized as HQMG, with values of 0.35 (95 % CI; 0.23–0.48), 0.36 (95 % CI; 0.26–0.42), and 0.36 (95 % CI; 0.22–0.48), respectively. Significant statistical heterogeneity was observed in the healthy, renal disease, and other disease groups, with I2 values of 92.4 , 82.7, and 90.7 %, respectively (p<0.001). Both Funnel plots and the results of Egger’s and Begg’s tests indicated no statistically significant bias across all studies. Conclusions: A significantly low correlation was found between 25(OH)D and 1,25(OH)2D. However, higher correlations were found in the studies categorized as HQMG. Various factors, including methodological inadequacies and disparities, might contribute to this. In the future, with more accurate and reproducible measurements of 1,25(OH)2D, a clearer understanding of vitamin D metabolism will be achieved.

Background/Objectives: Vitamin B12 deficiency affects up to 40% of certain populations worldwide and has been associated with cardiometabolic risk. However, its relationship with detailed lipoprotein subfractions remains poorly defined. This study aimed to investigate the association between serum vitamin B12 levels and atherogenic lipid profiles using NMR-based lipoprotein subfraction analysis. Methods: In this retrospective cross-sectional study, data from 20,665 apparently healthy adults undergoing routine health screening were analyzed. Participants were categorized into quartiles based on serum vitamin B12 levels (Q1: ≤328 pg/mL; Q4: ≥540 pg/mL). Lipoprotein subfractions were quantified using Bruker NMR spectroscopy. The Atherogenic Index of Plasma was calculated as log₁₀(triglycerides/HDL-cholesterol). Statistical analyses included ANCOVA adjusted for age, with corrections for multiple comparisons. Results: Higher serum B12 levels were significantly associated with a more favorable lipid profile. Specifically, AIP values decreased progressively across B12 quartiles (Q1: −0.051 ± 0.273; Q4: −0.170 ± 0.294; p < 0.001, partial η² = 0.017). HDL-cholesterol increased (p < 0.001, partial η² = 0.008), while triglycerides and VLDL-TG subfractions (VLDL1-TG: p < 0.001; VLDL5-TG: p = 0.029) declined with higher B12 levels. Among LDL subfractions, small dense LDL (LDL5-TG) exhibited a consistent inverse association with B12 (p = 0.002, partial η² = 0.001). These associations were robust across all age strata, with no significant interaction between B12 levels and age. Conclusions: Serum vitamin B12 levels are inversely associated with atherogenic lipid parameters in a large cohort of asymptomatic individuals. Higher B12 status correlates with lower AIP, reduced triglyceride-rich lipoproteins, and diminished small dense LDL particles across all age groups. These findings suggest that B12 status may serve as a potential biomarker in cardiovascular risk assessment and highlight the need for prospective interventional studies.

Background/Objectives: Triglyceride (TG), Total Cholesterol (TC), HDL cholesterol (HDL-C), and LDL cholesterol (LDL-C) levels are commonly tested routine lipid profiles (RLPs) for assessing cardiovascular disease (CVD) risk. While lipid levels are typically measured by using standard clinical chemistry tests in routine practice, Nuclear Magnetic Resonance (NMR) spectroscopy has recently been explored for its ability to determine lipid levels under clinical settings. This study aims to compare RLP and NMR analysis using 17,337 fresh serum samples. Additionally, it investigates the impacts of freezing–thawing on these parameters in 9559 frozen samples. Methods: RLP was performed by employing the Siemens Dimension clinical chemistry system. Furthermore, the lipid contents of the fresh and frozen serum samples were evaluated across different concentration ranges. Results: Lipid parameters of fresh samples ascertained with RLP and NMR were strongly correlated (r ≥ 0.93). Analysis with frozen samples revealed that the correlation between lipid measurements decreased below r ≤ 0.86, except for TG (r = 0.97). Additionally, at different concentration ranges, the lower-level ranges for all lipid parameters in both fresh and frozen samples exhibited weaker correlations. Conclusions: This study demonstrates that NMR spectroscopy is a reliable, rapid, chemical-free method for lipid analysis in fresh samples. However, in frozen samples, relying on NMR to support RLP offers a less reliable approach for lipid measurement.

Follicular fluid cytokine and homocysteine profiles in poor ovarian responders with and without sonographic endometrioma: A comparative study - Turkish Journal of Obstetrics and Gynecology