In particular, mutations in PLIN1 and PLIN4 have been linked to many metabolic phenotypes, and loss-of-function heterozygous mutations in PLIN1 and PLIN4 positively and negatively, respectively, correlate with metabolic disease (Duan and Savage, 2023; Griseti et al., 2023). The gene discussed is PLIN1; the disease is Other metabolic disease.