Pompe Disease (PD)

Pompe disease, also known as glycogen storage disease type II, is a rare disorder caused by an inborn error of metabolism.¹ In this inherited condition, genetic variations in the GAA gene result in a deficiency of the acid alpha-glucosidase (GAA) enzyme, which metabolizes glycogen. A deficiency of the GAA enzyme results in the excessive accumulation of glycogen, a sugar molecule, within cellular lysosomes. The buildup of glycogen in the tissues leads to failure to thrive for affected infants who fail to gain weight, and have breathing problems, progressive myopathy (muscle weakness), hypotonia (poor muscle tone), and severe cardiac and respiratory problems, which often result in death.² 

Multidisciplinary Care Team

The management of Pompe disease requires a multidisciplinary healthcare team, including a neurologist, cardiologist, pulmonologist, nutritionist, orthopedist, gastroenterologist, psychologist, and genetic counselor, in addition to physical, occupational, respiratory, and speech therapists.^3,4 Depending on the age of the patient at disease onset, a metabolic pediatrician or pediatric neurologist should identify signs of Pompe disease early and coordinate the overall multidisciplinary care of an infant with classic or nonclassic infantile-onset Pompe disease, and the care of a child or adolescent with late-onset Pompe disease.⁵ In the case of an adult with late-onset Pompe disease, a primary care physician should be able to recognize the signs and symptoms to allow a prompt diagnosis and initiate appropriate treatments and referrals to specialists in metabolic and neuromuscular disease.⁶

References

1. Kruszka P, Regier D. Inborn errors of metabolism: from preconception to adulthood. Am Fam Physician. 2019;99(1):25-32. 
2. Pompe disease. MedlinePlus. Accessed March 4, 2022. 
3. Pompe disease: learn the details about this rare disorder. WebMD. Reviewed June 30, 2020. Accessed March 4, 2022.
4. Murphy B. Treatment team for late-onset Pompe disease. Pompe Disease News. Updated January 12, 2021. Accessed March 4, 2022. 
5. Fecarotta S, Parenti G, Ascione S, Montefusco G, Andria G.  The pediatrician and the early onset Pompe disease. Acta Myol. 2011;30(3):199. 
6. ACMG Work Group on Management of Pompe Disease: Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8(5):267. doi:10.1097/01.gim.0000218152.87434.f3

Reviewed by Debjyoti Talukdar, MD, on 3/7/2022.

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Maria Arini Lopez, PT, DPT, CSCS, CMTPT, CIMT

Maria Arini Lopez, PT, DPT, CSCS, CMTPT, CIMT is a freelance medical writer and Doctor of Physical Therapy from Maryland. She has expertise in the therapeutic areas of orthopedics, neurology, chronic pain, gastrointestinal dysfunctions, and rare diseases especially Ehlers Danlos Syndrome.