An Introduction to Neurometabolic Disorders
Neurometabolic disorders are chronic conditions caused by genetic alterations in cell metabolism, most commonly enzymatic defects or abnormal storage accumulation in CNS cells. While individually rare, collectively they comprise a substantial health burden, and include X-linked adrenoleukodystrophy, metachromatic leukodystropy, mucopolysaccharidoses, and neuronal ceroid liposuscinoses. Diagnosis has been greatly enhanced by advances in next-generation sequencing and next-generation metabolic screening. Neuroradiology techniques, including diffusion-weighted imaging and proton MR spectroscopy, are increasing our understanding of the mechanisms underlying the disease. A number of gene therapies are currently in clinical investigation thanks to advances in vector design, stem cell manipulation, conditioning protocols, and cell/vector delivery.
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Neurometabolic Disorders Content
Pompe disease: Expanding manifestations and evolving management
Watch leading experts discuss recent developments in Pompe disease, including refined understanding of phenotypes and multisystem clinical manifestations emerging in the era of enzyme replacement therapy (ERT). The impact on paediatric patients and their caregivers is also explored, alongside approaches to further optimize multidisciplinary management of Pompe disease.
- Discuss how successful ERT has led to the new phenotype of infantile-onset Pompe disease
- Describe the multisystem disorders of late-onset Pompe disease
- Explain the approaches that are being used to address the unmet treatment needs for Pompe disease
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