Department of Diabetes and Endocrinology, Salford Royal Organisation, Northern Care Alliance NHS Foundation Trust, Salford M6 8HD, UK.
The School of Medicine and Manchester Academic Health Sciences Centre, The University of Manchester, Manchester M13 9PL, UK.
Genes (Basel). 2024 Jul 15;15(7):923. doi: 10.3390/genes15070923.
Inherited metabolic diseases (IMDs) are a group of heterogeneous genetic disorders resulting in substrate accumulation, energy deficiency, or complex molecular defects due to the failure of specific molecules to act as enzymes, cofactors, transporters, or receptors in specific metabolic pathways. The pathophysiological changes seen in IMDs are sometimes associated with intellectual disability (ID) or neurocognitive decline, necessitating multidisciplinary input. We here describe our experience at one tertiary metabolic centre in the UK. We reviewed the case prevalence and existing service provision in one adult IMD service covering a multi-ethnic population of 10 million in North England. In our cohort of 2268 IMD patients, 1598 patients had general metabolic conditions (70.5%), and 670 had lysosomal storage disease/disorders (LSD)s (29.5%). The overall prevalence of ID and neurocognitive decline was found to be 15.7% ( = 357), with patients with LSDs accounting for 23.5% ( = 84) of affected patients. Given the prevalence of ID in adults with IMDs, access to multidisciplinary input from neuropsychology and neuropsychiatry services is important. Education of healthcare professionals to diagnose IMDs in patients with ID, in addition to neurocognitive and neuropsychiatric presentations, will avoid missed diagnoses of IMD and will have a positive effect on patient outcomes.
遗传性代谢疾病（IMDs）是一组异质性遗传疾病，由于特定分子无法作为酶、辅助因子、转运体或受体在特定代谢途径中发挥作用，导致底物积累、能量不足或复杂的分子缺陷。IMDs 中观察到的病理生理变化有时与智力残疾（ID）或神经认知能力下降有关，需要多学科的投入。我们在这里描述了我们在英国一个三级代谢中心的经验。我们回顾了一个覆盖英格兰北部 1000 万人口的多民族人群的一个成人 IMD 服务的病例患病率和现有服务提供情况。在我们的 2268 名 IMD 患者队列中，1598 名患者患有一般代谢疾病（70.5%），670 名患者患有溶酶体贮积症/疾病（LSD）（29.5%）。发现 ID 和神经认知能力下降的总患病率为 15.7%（=357），LSD 患者占受影响患者的 23.5%（=84）。鉴于 IMD 成年患者的 ID 患病率，获得神经心理学和神经精神病学服务的多学科投入很重要。教育医疗保健专业人员诊断 ID 患者中的 IMD，除了神经认知和神经精神病学表现外，还将避免 IMD 的漏诊，并对患者的结局产生积极影响。
