4 research outputs found

    Cardiometabolic risk factor clustering in patients with deficient branched‐chain amino acid catabolism: A case‐control study

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    AbstractClassical organic acidemias (OAs) result from defective mitochondrial catabolism of branched‐chain amino acids (BCAAs). Abnormal mitochondrial function relates to oxidative stress, ectopic lipids and insulin resistance (IR). We investigated whether genetically impaired function of mitochondrial BCAA catabolism associates with cardiometabolic risk factors, altered liver and muscle energy metabolism, and IR. In this case‐control study, 31 children and young adults with propionic acidemia (PA), methylmalonic acidemia (MMA) or isovaleric acidemia (IVA) were compared with 30 healthy young humans using comprehensive metabolic phenotyping including in vivo 31P/1H magnetic resonance spectroscopy of liver and skeletal muscle. Among all OAs, patients with PA exhibited abdominal adiposity, IR, fasting hyperglycaemia and hypertriglyceridemia as well as increased liver fat accumulation, despite dietary energy intake within recommendations for age and sex. In contrast, patients with MMA more frequently featured higher energy intake than recommended and had a different phenotype including hepatomegaly and mildly lower skeletal muscle ATP content. In skeletal muscle of patients with PA, slightly lower inorganic phosphate levels were found. However, hepatic ATP and inorganic phosphate concentrations were not different between all OA patients and controls. In patients with IVA, no abnormalities were detected. Impaired BCAA catabolism in PA, but not in MMA or IVA, was associated with a previously unrecognised, metabolic syndrome‐like phenotype with abdominal adiposity potentially resulting from ectopic lipid storage. These findings suggest the need for early cardiometabolic risk factor screening in PA

    Self-Assessment Framework for Corporate Environmental Sustainability in the Era of Digitalization

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    The shift towards a climate-neutral economy will affect businesses in the upcoming decades. Companies will need to increase their transformation towards environmentally sustainable businesses in the following years, in which digitalization might be a practical enabler to accelerate this transformation. However, as a starting point, companies require knowledge of their current sustainability performance to manage this transition and need a method that provides the necessary information. The use of self-assessment tools is a widely acknowledged method for such processes. Nevertheless, there is a lack of self-assessment tools that integrate sustainability and digitalization perspectives to overcome different organizational barriers. This paper focuses on how managers can be supported in planning their transformations by interlinking sustainability and digitization. Our objective is to enable the managers of companies to assess their current state in terms of corporate environmental sustainability and to explore their policies, information systems, and actions to support their transformation towards sustainable and digital businesses. A self-assessment tool based on a rapid questionnaire is presented after reviewing and synthesizing different approaches, including maturity modeling, sustainability reporting, and digital assessment tools. The self-assessment tool is improved upon evaluation by industry experts and the framework is tested on a case company
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