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Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease.

ABSTRACT: Inherited metabolic diseases account for 15-20% of all cases of pediatric cardiomyopathy, with a high mortality of 15-47%. Metabolic diseases can also commonly be associated with other types of cardiovascular involvement such as arrhythmias, valvulopathy or vasculopathy. We reviewed and updated the list of known metabolic etiologies associated with cardiovascular involvement, and found 246 relevant inborn errors of metabolism. This represents the fourth of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.

SUBMITTER: Ferreira CR

PROVIDER: S-EPMC7867625 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease.

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Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases.

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Project description:Over the last two decades, gene therapy has been successfully translated to many rare diseases. The number of clinical trials is rapidly expanding and some gene therapy products have now received market authorisation in the western world. Inherited metabolic diseases (IMD) are orphan diseases frequently associated with a severe debilitating phenotype with limited therapeutic perspective. Gene therapy is progressively becoming a disease-changing therapeutic option for these patients. In this review, we aim to summarise the development of this emerging field detailing the main gene therapy strategies, routes of administration, viral and non-viral vectors and gene editing tools. We discuss the respective advantages and pitfalls of these gene therapy strategies and review their application in IMD, providing examples of clinical trials with lentiviral or adeno-associated viral gene therapy vectors in rare diseases. The rapid development of the field and implementation of gene therapy as a realistic therapeutic option for various IMD in a short term also require a good knowledge and understanding of these technologies from physicians to counsel the patients at best.

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