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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