Traditionally thought of as a pediatric diagnostic and therapeutic dilemma, the diagnostic rate and spectrum of inborn errors of metabolism (IEM) in the adult population is largely unknown. A retrospective chart review of patients seen by the Michigan Medicine Adult Medical Genetics Clinic for clinical evaluation from 2014 to 2018 was conducted. Patients referred for a primary indication possibly consistent with an IEM were considered. Variables included age at genetic evaluation, symptom onset age, sex, clinical course, organ systems involved, developmental history, family history and prior genetic testing. Of patients evaluated during the study period, 112 were referred for an indication possibly consistent with an IEM and underwent a complete biochemical workup with an IEM diagnostic rate of 9.8% achieved. An additional 9.8% were diagnosed with a non-IEM genetic diagnosis. Management changes were implemented in all IEM diagnoses. Metabolic disorders in the adult population are under-recognized and under-diagnosed. This report demonstrates the need for clinicians to consider these diagnoses in adults and either refer to a genetics clinic or initiate a biochemical workup. As advances in diagnosis, treatment, and life expectancy of patients with IEMs increases, recognizing and diagnosing these conditions can significantly impact care.

传统上被认为是小儿诊断和治疗的难题，成人人群的先天性新陈代谢错误（IEM）的诊断率和诊断谱尚不清楚。对密歇根医学成人医学遗传学诊所2014年至2018年进行临床评估的患者进行回顾性图表审查。考虑转诊为可能符合IEM的主要适应症的患者。变量包括基因评估时的年龄，症状发作的年龄，性别，临床过程，涉及的器官系统，发育史，家族史和先前的基因检测。在研究期间评估的患者中，有112人被推荐可能与IEM相符的适应症，并接受了完整的生化检查，IEM诊断率为9.8％。另外9。8％被诊断为非IEM基因诊断。在所有IEM诊断中均进行了管理更改。成人人群中的代谢紊乱未被充分认识和诊断不足。该报告表明临床医生需要考虑成年人的这些诊断，并转诊至遗传学诊所或进行生化检查。随着IEM患者的诊断，治疗和预期寿命的提高，识别和诊断这些疾病会极大地影响护理。