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Pompe Disease: Types, Causes, Inheritance, Diagnosis & Treatment

Pompe disease is a rare and inherited neuromuscular disorder. The condition develops when there is a shortage of the enzyme that naturally processes the glycogen in the body called the glycogen phosphorylase. The lack of this enzyme causes the glycogen to get deposited in the tissue, muscles and organs. The build-up of glycogen causes the muscles and organs to weaken[1] .

Pompe disease is also called acid maltase deficiency or glycogen storage disease type II. The severity of the condition depends on one's age at onset.

Types Of Pompe Disease

The neuromuscular disorder is classified into three types, depending on the severity of the condition and the age of onset[2] . The different type of Pompe disease are as follows:

Classic infantile: The most severe form of the condition, class infantile causes the affected person to have a complete lack of the necessary enzyme to process glycogen. Affecting infants, classic infantile causes the infant to be floppy due to weak muscles. This, in turn, causes heart failure in infants before the age of 2.

Symptoms begin to show in an infant's first three months of life and progress rapidly.

Childhood or non-classic infantile: A milder form of the Pompe disease, the enzyme necessary to produce glycogen is reduced by 70 per cent or less. Children with this condition have delayed motor skills and often require the help of a ventilator to help them breathe. Most children with this type of Pompe disease die of respiratory failure in early childhood [3] [4] .

Symptoms usually appear by the time a child reaches 12 months, and in some cases, it can develop later on as well.

Late-onset: The mildest form of Pompe disease, this condition causes progressive muscle weakness that leads to fatigue. It affects the lower limbs and the trunk muscles. According to studies, about 60 per cent of people with late-onset Pompe disease have a mild reduction in breathing capacity, and 30 to 40 per cent have a moderate reduction. People with late-onset Pompe disease often die as a result of respiratory failure [5] .

The signs of the condition may not appear until adolescence or adulthood and may extend to age 60.

Symptoms Of Pompe Disease

Each type of condition has different symptoms pertaining to it and they are as follows [4] [5] :

The symptoms of the classic type are as follows [5] :

  • Infections in the respiratory system
  • Problems with hearing
  • Poor muscle tone
  • Enlarged liver
  • Failure to gain weight and grow at the expected rate
  • Weak muscles
  • Trouble breathing
  • Feeding problems

The symptoms of childhood or non-classic type are as follows [6] :

  • Breathing problems
  • Motor skills delayed
  • Muscles get steadily weaker
  • Abnormally large heart

The symptoms of late-onset are as follows [5] [6] :

  • Breathing problems
  • Enlarged heart
  • Irregular heart beat
  • Increased difficulty hearing
  • Increasing difficulty in walking
  • Muscle pain over a large area
  • Loss of the ability to exercise
  • Frequent lung infections
  • Shortness of breath
  • Headaches in the morning
  • Tiredness
  • Losing weight
  • Cannot swallow as easily as before

Causes Of Pompe Disease

A genetic disorder, Pompe disease is caused by the inherited mutations in a particular gene on chromosome 17 q25, which is responsible for producing the acid alpha-glucosidase (GAA) enzyme that processes glycogen [6] .

With a lack of the necessary amount of GAA enzyme, the glycogen tends to get accumulated to toxic levels in areas of cells called lysosomes, causing muscle, tissue, and organ damage.

The recessive gene disorder is inherited from the parent to the child. If you inherit one normal gene and one defective gene for Pompe, you will be a carrier of the disease, but you won't have symptoms[7] .

But in the case of both parents being carriers,

  • there is a 25 per cent risk that a child will be born with Pompe disease,
  • there is a 50 per cent risk that a child will be born who is a carrier, like their parents and
  • there is a 25 per cent chance that a child will be born with normal genes [8] .

Complications Of Pompe Disease

  • Hearing loss
  • Drooping eyelids
  • Impaired speech
  • Gastroesophageal reflux
  • Osteopenia

Diagnosis Of Pompe Disease

Doctors will examine the condition depending upon the type of symptoms, as well as by examining your family medical history.

Due to the rare nature of the condition, diagnosis can be difficult, especially with late-onset as it can resemble neuromuscular diseases [9] .

The doctor will carry out a screening chest X-ray, electrocardiogram, and echocardiogram for infants. To confirm the diagnosis, the doctor can order tests to measure the level of the GAA enzyme in dried blood spots, muscles, or skin cells [10] .

A biopsy will also be conducted.

Treatment For Pompe Disease

The medical care provided for Pompe disease depends on age and symptoms. However, once the muscles are destroyed, treatments will no longer be effective [11] .

The treatments prescribed for the condition are as follows:

  • Enzyme replacement therapy
  • Physical therapy to strengthen muscles for breathing and building up strength
  • Braces, and other orthopaedic appliances to also help mobility
  • Speech therapy when oral and breathing muscles are affected
  • Breathing assistance, including ventilators
  • Surgery
  • Feeding tubes to ensure adequate nutrition
  • Special diets

A rare and deadly disease, Pompe disease has no cure. The treatments can help relieve the symptoms and better the condition of the individual. For those with the later-onset disease, the outlook is better. Because, the later the symptoms appear, the more slowly the disease progresses [12] .

View Article References
  1. [1] Van der Ploeg, A. T., & Ebbink, B. J. (2019). Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy.
  2. [2] Van Capelle, C. I., Van der Meijden, J. C., Van den Hout, J. M. P., Jaeken, J., Baethmann, M., Voit, T., ... & Lachmann, R. H. (2016). Childhood Pompe disease: clinical spectrum and genotype in 31 patients. Orphanet journal of rare diseases, 11(1), 65.
  3. [3] Bodamer, O. A., Scott, C. R., Giugliani, R., & Pompe Disease Newborn Screening Working Group. (2017). Newborn screening for Pompe disease. Pediatrics, 140(Supplement 1), S4-S13.
  4. [4] Nakanishi, T., Markwald, R. R., Baldwin, H. S., Keller, B. B., Srivastava, D., & Yamagishi, H. (2016). Lentiviral Gene Transfer to iPS Cells: Toward the Cardiomyocyte Differentiation of Pompe Disease-Specific iPS Cells--Etiology and Morphogenesis of Congenital Heart Disease: From Gene Function and Cellular Interaction to Morphology.
  5. [5] Clemens, P., Laforet, P., Kacena, K., Sanson, B. J., Hopkin, R., & Van Der Ploeg, A. (2017). Long-Term Efficacy of Alglucosidase Alfa in Late-Onset Pompe Disease (P1. 120).
  6. [6] Kohler, L., Puertollano, R., & Raben, N. (2018). Pompe disease: from basic science to therapy. Neurotherapeutics, 15(4), 928-942.
  7. [7] Lim, J. A., Sun, B., Puertollano, R., & Raben, N. (2018). Therapeutic benefit of autophagy modulation in Pompe disease. Molecular Therapy, 26(7), 1783-1796.
  8. [8] Mori, M., Haskell, G., Kazi, Z., Zhu, X., DeArmey, S. M., Goldstein, J. L., ... & Kishnani, P. S. (2017). Sensitivity of whole exome sequencing in detecting infantile-and late-onset Pompe disease. Molecular genetics and metabolism, 122(4), 189-197.
  9. [9] van der Ploeg, A. T., Kruijshaar, M. E., Toscano, A., Laforêt, P., Angelini, C., Lachmann, R. H., ... & van Doorn, P. A. (2017). European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience. European journal of neurology, 24(6), 768-e31.
  10. [10] Lukacs, Z., Cobos, P. N., Wenninger, S., Willis, T. A., Guglieri, M., Roberts, M., ... & Schlotter-Weigel, B. (2016). Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology, 87(3), 295-298.
  11. [11] De Vries, J. M., Kuperus, E., Hoogeveen-Westerveld, M., Kroos, M. A., Wens, S. C., Stok, M., ... & Van Der Ploeg, A. T. (2017). Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy. Genetics in Medicine, 19(1), 90.
  12. [12] Schoser, B., Stewart, A., Kanters, S., Hamed, A., Jansen, J., Chan, K., ... & Toscano, A. (2017). Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis. Journal of neurology, 264(4), 621-630.

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