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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
PubMed

Insights

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.

Keywords:
Pompe's diseaseacid lisosomal maltase deficiencyalfa-glucosidaseconsensusenzyme replacement therapytype II glycogenosis

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