Abstract
Background: Pompe disease, also denoted as acid maltase or acid α-glucosidase deficiency or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage disorder. Several reports have previously described Pompe disease in Iran and considering increased awareness of related subspecialties and physicians, the disease's diagnosis is growing.Objective: This guideline's main objective was to develop a national guideline for Pompe disease based on national and international evidence adapting with national necessities.Methods: A group of expert clinicians with particular interests and experience in diagnosing and managing Pompe disease participated in developing this guideline. This group included adult neurologists, pediatric neurologists, pulmonologists, endocrinologists, cardiologists, pathologists, and physiatrists. After developing search terms, four authors performed an extensive literature review, including Embase, PubMed, and Google Scholar, from 1932 to current publications before the main meeting. Before the main consensus session, each panel member prepared an initial draft according to pertinent data in diagnosis and management and was presented in the panel discussion. Primary algorithms for the diagnosis and management of patients were prepared in the panel discussion. The prepared consensus was finalized after agreement and concordance between the panel members.Conclusion: Herein, we attempted to develop a consensus based on Iran's local requirements. The authors hope that disseminating these consensuses will help healthcare professionals in Iran achieve the diagnosis, suitable treatment, and better follow-up of patients with infantile-onset Pompe disease and late-onset Pompe disease.
Highlights
Pompe disease, known as acid maltase deficiency or acid αglucosidase (GAA) deficiency or glycogen storage disease type II, is an uncommon, autosomal recessive lysosomal storage disorder; it was initially described in a 7-month-old girl who deceased of cardiomyopathy [1].The disease was recognized as a glycogen storage disorder wherein glycogen had accumulated within all the studied tissue vacuoles [1]
We propose that Dried blood spot (DBS) should be suggested as the initial investigation for all floppy infants or infants with a positive family history of Pompe disease, cardiomegaly, hypertrophic cardiomyopathy, feeding, or respiratory problems (Figure 2)
For late-onset patients, we suggest ordering DBS for all patients with muscle weakness, axial weakness, or rigidity, especially if accompanied by respiratory dysfunction or in the case of isolated hyperCKemia (Figure 3)
Summary
Known as acid maltase deficiency or acid αglucosidase (GAA) deficiency or glycogen storage disease type II, is an uncommon, autosomal recessive lysosomal storage disorder; it was initially described in a 7-month-old girl who deceased of cardiomyopathy [1].The disease was recognized as a glycogen storage disorder wherein glycogen had accumulated within all the studied tissue vacuoles [1]. The most acceptable classification of Pompe disease is based on the age of onset as the infantile-onset (classic and non-classic) and late-onset (childhood/juvenile and adult) forms. These forms vary according to clinical presentations, the organ involvement severity, and GAA activity levels. Several reports have previously described Pompe disease in Iran, and progressively, the disease’s diagnosis is increasing, considering increased awareness of related subspecialties and physicians. Several reports have previously described Pompe disease in Iran and considering increased awareness of related subspecialties and physicians, the disease’s diagnosis is growing
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