AI Article Synopsis
- Inherited metabolic diseases (IMDs) are genetic disorders that lead to problems in metabolic pathways, affecting enzyme, cofactor, transporter, or receptor function and sometimes resulting in intellectual disabilities or cognitive decline.
- A study at a UK tertiary metabolic center reviewed 2268 IMD patients in a diverse population, revealing that 70.5% had general metabolic conditions and 29.5% had lysosomal storage disorders, with a notable 15.7% experiencing intellectual disability.
- The findings highlight the necessity for multidisciplinary support from healthcare professionals, emphasizing the importance of educating them to recognize IMDs to improve diagnosis and patient care outcomes.
Article Abstract
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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11276493 | PMC |
| http://dx.doi.org/10.3390/genes15070923 | DOI Listing |
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