In this study, the four most common recessive genes of metabolism disorders were identified (> 1/60), including the SRD5A2 gene (5-alpha reductase deficiency), ATP7B gene (Wilson disease), PAH gene (Phenylketonuria), and SLC25A13 gene (Citrin deficiency). The gene discussed is SLC25A13; the disease is pulmonary arterial hypertension.