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[Argentine consensus on late-onset Pompe's disease]
Alberto Dubrovsky1, Ernesto Fulgenzi2, Eduardo L De Vito3,4
1Instituto de Neurociencias, Fundación Favaloro, Buenos Aires, Argentina.
Medicina
|September 5, 2018
Summary
This consensus updates management guidelines for delayed-onset Pompe disease (PD), a rare metabolic disorder caused by acid alpha-glucosidase deficiency. It focuses on expert opinions for diagnosis, treatment, and follow-up in adults and children.
Area of Science:
- Metabolic Disorders
- Genetics
- Enzyme Deficiencies
Background:
- Pompe disease (PD) is a rare, autosomal recessive metabolic disorder.
- It results from deficient acid alpha-glucosidase enzyme activity.
- Delayed-onset PD presents after one year of age.
Framework:
- Update of the 2013 Argentine Consensus on Pompe disease.
- Expert consensus incorporating recent literature (last 4 years).
- Multidisciplinary expert panel including internal medicine, neurology, pulmonology, and rehabilitation specialists.
Implementation:
- Focus on diagnosis, treatment, and follow-up strategies for delayed-onset PD.
- Literature review with emphasis on the latest research findings.
- Expert opinion-based recommendations due to limited data.
Implications:
- Provides updated clinical guidance for managing delayed-onset Pompe disease.
- Aims to improve patient outcomes through expert-driven recommendations.
- Highlights the need for continued research in rare metabolic disorders.