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Adult muscle carnitine palmitoyltransferase (CPT) II deficiency is a rare autosomal recessive disorder of long-chain fatty acid metabolism. It is typically associated with recurrent episodes of exercise-induced rhabdomyolysis and myoglobinuria, in most cases caused by a c.338C > T mutation in the CPT2 gene. Here we present the pedigree of one of the largest family studies of CPT II deficiency caused by the c.338C > T mutation, documented so far. The pedigree comprises 24 blood relatives
of the index patient, a 32 year old female with genetically proven CPT II deficiency. In total, the mutation was detected in 20 family members, among them five homozygotes and 15 heterozygotes. Among all homozygotes, first symptoms of CPT II deficiency occurred during childhood. Additionally, two already deceased relatives of the index patient were carriers of at least one copy of the genetic variant, revealing a remarkably high prevalence of the c.338C > T mutation within the tested family. Beside the index patient, only one individual had been diagnosed with CPT II deficiency prior to this study and three cases of CPT II deficiency were newly detected by this family study, pointing
to a general underdiagnosis of the disease. Therefore, this study emphasizes the need to raise awareness of CPT II deficiency for correct diagnosis and accurate management of the disease.
Through mandatory ESG (environmental, social, governance) reporting large companies must disclose their ESG activities showing how sustainability risks are incorporated in their decision-making and production processes. This disclosure obligation, however, does not apply to small and medium-sized enterprises (SME), creating a gap in the ESG dataset. Banks are therefore required to collect sustainability data of their SME customers independently to ensure complete ESG integration in the risk analysis process for loans. In this paper, we examine ESG risk analysis through a smart science approach laying the focus on possible value outcomes of sustainable smart services for banks as well as for their (SME) customers. The paper describes ESG factors, how services can be derived from them, targeted metrics of ESG and an ESG Service Creation Framework (business ecosystem building, process model, and value creation). The description of an exemplary use case highlighting the necessary ecosystem for service creation as well as the created value concludes the paper.