# The Clinical Burden of Inherited Neurometabolic Disorders in Adults—A Territorial Care Approach

**Authors:** Daniele Orsucci, Elena Caldarazzo Ienco, Martina Giuntini, Marco Vista

PMC · DOI: 10.3390/jcm15010146 · Journal of Clinical Medicine · 2025-12-24

## TL;DR

This paper discusses how inherited neurometabolic disorders affect adults and highlights the importance of integrated local care for better patient outcomes.

## Contribution

The paper emphasizes the value of a territorial care approach for managing adult patients with inherited neurometabolic disorders.

## Key findings

- Inherited neurometabolic disorders often present with complex neurological symptoms in adults.
- An integrated local care approach improves continuous monitoring and multidisciplinary support for patients.
- Early intervention is critical for managing these chronic and progressive conditions.

## Abstract

Neurometabolic diseases encompass a diverse group of rare and often progressive genetic disorders affecting the nervous system due to abnormalities in metabolic pathways. These conditions, including mitochondrial disorders, lysosomal storage diseases, and others, can manifest in adults with a range of neurological symptoms, which will be reviewed here. Given their complexity and chronic nature, comprehensive management is crucial for improving patients’ quality of life. In this Invited Perspective, we review the neurological signs and symptoms of the most commonly encountered inherited metabolic disorders in adult neurology. Furthermore, drawing on our clinical experience, we demonstrate that an integrated local care approach is fundamental for these patients, as it enables continuous monitoring, early intervention, and coordinated multidisciplinary support.

## Full-text entities

- **Diseases:** Neurometabolic diseases (MESH:D004194), lysosomal storage diseases (MESH:D016464), mitochondrial disorders (MESH:D028361), inherited metabolic disorders (MESH:D020739), genetic disorders (MESH:D030342), Neurometabolic Disorders (MESH:D009358)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

37 references — full list in the complete paper: https://tomesphere.com/paper/PMC12787141/full.md

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Source: https://tomesphere.com/paper/PMC12787141