Pompe disease

This is part of Rare diseases.

Diagnosis: Pompe disease

Synonyms: Glycogen storage disease type II, Glycogenosis type II, Acid maltase deficiency


Publication date: 2014-04-16
Version: 2.0

ICD 10


The disease

Pompe disease is a glycogen storage disease, which is a metabolic disorder. It is caused by an inherited enzyme deficiency, meaning that the body cannot break down the glycogen which is stored in the lysosomes. Other names of the disease are glycogen storage disease type II and acid maltase deficiency. Glycogen is a complex sugar which is stored mainly in the liver and musculature. In Pompe disease, glycogen accumulates in the tissues of the body and, depending on the degree of enzyme deficiency, causes various symptoms. They may occur in the muscles or, in severely affected children, also in the heart and liver.

Rudolf Virchow, a German pathologist, first described what is now presumed to be a glycogen storage disease in 1864. The disease was named after the Dutch physician, Joannes Cassianius Pompe, who was the first to prove the existence of glycogen storage in 1932. The link between the enzyme deficiency and Pompe disease was first established in the 1960’s. Examples of other glycogen storage diseases are McArdle disease and Tarui disease. Both conditions are described separately in information material available in the Swedish Board of Health and Welfare database of rare diseases.

Pompe disease is also classed as a lysosomal disease. Lysosomes are small cellular subunits present in all cells of the body with the exception of red blood cells. Their function is to work with enzymes (specific types of proteins) to break down different substances. This breaking-down process frees the component parts of these substances. In this way proteins, for example, are broken down into amino acids. After they have been freed, these components are transported out of the lysosomes and recycled, acting as building bricks in the production of new cells.

All lysosomal diseases are characterized by reduced lysosomal function, caused either by impaired function in one of the lysosome’s enzymes, or in the transport proteins which carry substances into or out of lysosomes.

Currently, we know of approximately seventy different lysosomal diseases. Some examples are: aspartylglykosaminuria, cystinosis, Fabry disease, Gaucher disease, GM2 gangliosidosis, Krabbe disease, mannosidosis, metachromatic leukodystrophy, mucopolysaccharidoses I, II, III, IV, VI and VII, and Salla disease. Separate information on these diseases is available in the Swedish Rare Disease Database.


The rate of prevalence of Pompe disease is estimated in international medical literature at approximately two to three per 100,000, of which the infantile form is around one per 100,000 births and the late-onset form at slightly fewer than two per 100,000. There are significant differences in the distribution of the disease, and in Sweden the incidence is thought to be much lower. Currently (2013), there are about 20 people who have been diagnosed with the disease in Sweden.

In the infantile form of Pompe disease, symptoms appear during the first year of life, making the condition easier to discover and diagnose. When the disease presents later, symptoms vary greatly and may be more diffuse. This means that the correct diagnosis may often be significantly delayed and, sometimes, that the wrong diagnosis is made.


The disease is caused by a mutation (a structural defect) in the GAA (acid a-glucosidase) gene. This gene controls the formation of the enzyme acid maltase (alpha-1,4-glucoside and alpha-1,6-glucoside). The function of the enzyme is to break down glycogen into glucose in the lysosomes (see figure 1). In Pompe disease, the enzyme deficiency causes glycogen to accumulate in the lysosomes in many different tissues, leading primarily to damage in the tissues of the musculature and heart. Glycogen also accumulates in the liver and the walls of blood vessels, which may sometimes lead to aneurysms. Individuals who develop symptoms later in life retain low levels of enzyme function, which may account for the wide age range of these patients and their great variety of symptoms.


Figure: Glycogen builds up in cells and is taken up by the lysosomes. In Pompe disease, it cannot be broken down into glucose an


Figure: Glycogen builds up in cells and is taken up by the lysosomes. In Pompe disease, glycogen cannot be broken down into glucose and therefore accumulates, causing tissue damage.

GAA is located far along the long arm of chromosome 17 (17q25.2-q25.3). Many hundred genetic mutations are known, affecting different stages in the production of the enzyme. There is a certain correlation between the type of mutation, the amount of enzyme activity remaining, and the severity of the disease.

With very severe enzyme deficiency leading to the infantile forms, glycogen also accumulates in the nervous system, particularly in the anterior horn cells of the spinal cord, the brain stem and the auditory canals.

Other inherited factors may also affect the severity of the disease. For example, it is possible to link variations (polymorphisms) in the ACE gene, coding for the enzyme that converts angiotensin, with a more severe form of the disease, which is associated with the D-dominant (DD) genotype.


In Pompe disease the pattern of inheritance is autosomal recessive. This means that both parents are healthy carriers of a mutated gene. In each pregnancy with the same parents there is a 25 per cent risk that the child will inherit double copies of the mutated gene (one from each parent). In this case the child will inherit the disease. In 50 per cent of cases the child inherits only one mutated gene (from one parent only) and, like both parents, will be a healthy carrier of the mutated gene. In 25 per cent of cases the child will not have the disease and will not be a carrier of the mutated gene.

Figure: Autosomal recessive inheritance

A person with an inherited autosomal recessive disease has two mutated genes. If this person has a child with a person who is not a carrier of the mutated gene, all the children will inherit the mutated gene but they will not have the disorder. If a person with an inherited autosomal recessive disease has children with a healthy carrier of the mutated gene (who has one single copy of the mutated gene) there is a 50 per cent risk of the child having the disorder, and a 50 per cent risk of the child being a healthy carrier of the mutated gene.


Symptoms can present at any time of life and vary greatly in degree of severity and rate of progression. Generally, the earlier the disease presents the more severe it is. Those forms which appear later in life are more common than the infantile forms.

GSD IIa (classic infantile form)

The classic infantile form sometimes presents during the prenatal period as weak foetal movement, although it usually appears in the neonatal period or in the first months of life. There is pronounced muscle weakness, and the affected children find it difficult to suck and feed. Muscle tone is impaired as a result of damage to muscle fibre caused by accumulated glycogen.

The child gradually develops breathing problems and symptoms of heart failure, as the heart is enlarged and its function impaired as a result of the accumulation of glycogen. The enlargement of the heart can be seen in X-rays or ultrasound examinations. The tongue and liver may also be enlarged. Hearing is frequently impaired, and the muscles controlling swallowing are weak.

After the first year of life, muscle weakness increases. Children often have repeated respiratory infections as a result of weakness in the muscles controlling breathing, and an impaired ability to cough up phlegm. Without enzyme replacement therapy (see under the heading, “Treatment”) children need a respirator within the first six months of life, and die of heart failure within one to two years.

The progression of the disease in children who receive early enzyme replacement therapy is often less rapid. Nevertheless, the central nervous system suffers some damage and cognitive abilities are impaired as enzyme therapy has no effect on the brain.

GSD IIb (non-classic infantile form)

In the non-classic infantile form, symptoms present later in the first year of life in the form of slowly progressive muscle weakness. This leads to breathing difficulties, ultimately creating the need for a respirator. The function of the heart is not as severely affected as in the classic form. Enlarged thigh muscles, combined with progressive muscle weakness, sometimes causes a person with this form of the disease to be wrongly diagnosed with muscular dystrophy (Duchenne and Becker types of muscular dystrophy or limb-girdle muscular dystrophy, LGMD). If enzyme replacement therapy is not given in time children with the condition die in infancy of respiratory failure, but if treatment is started early the progression can be slowed. In the longer term, the heart is affected.

Late-onset forms

Late-onset forms of the disease can present at any time from early childhood up to 60 years of age. However, this form presents most commonly in people between the ages of 20 and 30 and is characterised by a slowly progressive form of muscle weakness affecting the respiratory musculature. This muscle weakness causes problems when, for example, getting out of a chair, walking upstairs or running. Other signs include pain in the lower back, crooked spine (scoliosis), and problems with gait and balance. Most people with the adult form of Pompe disease will ultimately need a wheelchair.

Respiratory muscles are frequently affected from an early stage and to a greater extent than other musculature. This can make it difficult for people with the disease to breathe while lying on their backs and lead to respiratory distress, particularly at night. Without enzyme treatment most people will eventually require a respirator. The suspension of breathing during sleep (sleep apnea) can lead to morning headaches and tiredness during the day. Other common symptoms are tiredness and breathlessness during exertion. Individuals with the condition easily develop respiratory infections as it can be difficult to cough up phlegm. Problems chewing and swallowing can lead to difficulties gaining or maintaining weight.

The function of the heart is usually not affected, but when the patient’s life is extended due to enzyme therapy cardiac problems, including enlargement of the heart, may result. The accumulation of glycogen in the walls of the blood vessel can result in aneurysms and an increased risk of bleeding in the aorta or in the blood vessels of the brain.


In a newborn, indications of Pompe disease include very severe muscle weakness, respiratory failure and an enlarged heart, and in older children muscular weakness with respiratory failure. In older children and adults it is above all progressive muscle weakness affecting the respiratory musculature which leads to a diagnosis. People with Pompe disease have sometimes been misdiagnosed with muscular dystrophy or limb-girdle muscular dystrophy. It is therefore important to test for Pompe disease if a diagnosis is unclear. The diagnosis is based on the findings from certain tests:

  •  A muscle biopsy can often, but not always, reveal abnormal spaces (vacuoles) in the muscle fibres (vacuolar myopathy).
  • Blood tests for the muscle enzyme creatine kinase (CK) often show elevated levels, indicating general damage to muscle tissue.
  • A firm diagnosis of Pompe disease requires a confirmed acid maltase deficiency, and/or a DNA analysis where a mutation causing the disease is identified in gene GAA.
  • A biochemical analysis of the acid maltase enzyme can be made from a sample of dried blood on filter paper (from newborn blood spot screening) and be confirmed in an analysis of white blood cells, or of skin cell cultures (fibroblasts). Children with the classic infantile form have less than one per cent of normal enzyme activity. In the non-classic infantile form enzyme activity ranges from between one and 10 per cent of normal levels and in those forms which present later, enzyme activity is between 5 and 30 per cent of normal levels.

 At the same time that the diagnosis is made, examinations of the heart and lungs and an EMG (electromyography) of the muscles are carried out. It is also important that the family is offered genetic counselling. Carrier and prenatal diagnosis, as well as pre-implantation genetic diagnosis (PGD) in association with IVF (in vitro fertilization), are available in families where the mutation is known.


There is as yet no cure for the disease, but enzyme replacement therapy has improved muscle function and the quality of life of individuals with Pompe disease. Medication is given intravenously every second week. Studies have shown that many people treated with the enzyme substitute have better heart and muscle function, and substantially better survival rates, than those who do not receive the treatment.

In the infantile form it is important that treatment is started early, before the child develops breathing difficulties and heart failure. The muscle function of the majority of children who receive enzyme treatment improves dramatically; they do not require a respirator and their cardiac function improves. However, the long-term effects of this treatment on swallowing problems, impaired hearing, heart problems and cognitive development are not yet fully established.

Adults can also benefit from enzyme substitution therapy Here too it is important that treatment begins as soon as possible after diagnosis in order to minimise tissue damage. If treatment begins early many people with late-onset Pompe disease may never need, or may significantly postpone the need for, a respirator.

Half of those who receive enzyme therapy have an allergic reaction to it, something which may be prevented by administering the infusion very slowly and/or by giving medication to control the reaction.

People whose blood tests show they are entirely deficient in the enzyme and show no indications of being able to produce it (cross-reactive immunological material, CRIM) run an increased risk of developing permanent, high levels of antibodies which prevent the treatment being effective. This applies to approximately 25 per cent of those with the classic infantile form, but also to a few individuals with late-onset Pompe disease. However, if this particular group of people is also given high doses of immunomodulatory agents such as rituximab and methotrexate, and intravenous infusions of gammaglobulin, when receiving enzyme therapy, they too can be treated. For this reason it is important to establish the individual’s CRIM status before treatment starts.

Medical treatment is otherwise focused on alleviating symptoms. Infections and heart failure are treated with medication. Annual influenza vaccinations are important. Children under two should receive palivizumab to prevent them developing the RS virus. Assistance with breathing may also be necessary, initially at night.

Anaesthesia should be avoided as far as possible. The hearts of children with Pompe disease should be monitored particularly carefully during surgical procedures as there is an increased risk of cardiac dysrhythmia. Propofol affects the heart and should therefore be avoided.

Bone density should also be regularly monitored as it is often lower than normal (osteopenia) in Pompe disease.

Children with Pompe disease are examined by various specialists. When the diagnosis is made it is important that a team consisting of the attending physician, nurse, psychologist and social worker can provide support for relatives. Close collaboration between medical professionals working in different areas, including paediatric habilitation, is important.

Support and treatment take place within the medical, educational, psychological, social and technical fields. Interventions may include assessments, treatment, assistance with choice of aids, information about disabilities and counselling. It also includes information about support offered by the local authority as well as advice on the way accommodation and other environments can be adapted to the child’s needs. Parents and siblings can also receive support. Habilitation plans are based on existing needs. Habilitation varies over time but always takes place in collaboration with those close to the child or young person.

For children who do not respond to enzyme therapy, efforts should be directed at providing good, supportive care, and on ensuring the best possible quality of life. This is usually best achieved either at the local paediatric clinic or habilitation facility, with the same team of healthcare professionals taking care of the child, or at home in collaboration with the local hospital. It is also important that the family is offered respite care and continuous psychological and social support.

Many parents wish to care for the child at home as long as possible, with the assistance of healthcare professionals. Often the child is cared for alternately in the home and in the hospital. Palliative care may be required. This form of care aims to ensure that the child’s last days are as comfortable and pain-free as possible. This requires intensive cooperation among parents, other close relations and medical staff with different areas of expertise.

As these children often have feeding difficulties, parents may need to contact a dietician and a speech pathologist. Feeding via a tube through the nose, or a PEG (percutaneous endoscopic gastrostomy, where a tube is passed into a patient’s stomach through the abdominal wall) may be necessary. People with Pompe disease require a regular intake of nutrition as their muscles cannot use all the glycogen stored in the body. If the individual has an empty stomach for a long period of time blood proteins, instead of glycogen, are taken from the muscles and are used as energy. To reduce the process by which musculature is broken down, a PEG may also be required by people with the late-onset form of the disease.

Many people with Pompe disease reduce their consumption of carbohydrates and increase their consumption of protein in order to avoid unnecessary strain on their tissues. However, research on the role nutrition plays in the disease is limited.

Swedish public agencies can offer different forms of support to facilitate the family’s everyday life. It is important to remember that families of children with rapidly progressive diseases need special help in coordinating different forms of intervention.

Adults with the disease

Those who have a late-onset form of the disorder should be in close contact with a neurology clinic. As the musculature governing respiration is affected, some people may need to practise breathing exercises and use mechanical breathing assistance, for example ventilators or breathing masks. In recent years a mechanical insufflator-exsufflator which assists individuals to cough, has been widely used in Sweden. After a few assisted inhalations it draws up phlegm, which may be very helpful for individuals affected by lower respiratory tract infection, and whose ability to cough is reduced. The apparatus has been approved by many county councils for use in the home.

A physiotherapist will provide advice on suitable exercises and activities to help the individual to retain as much function as possible. Muscle weakness can affect daily activities so physical aids and adjustments to routines may be necessary when it comes to dressing, undressing, eating and mobility. Adjustments to the individual’s vehicle, accommodation, and workplace may also be necessary. An occupational therapist can be contacted for assistance in this area.

Practical advice


National and regional resources in Sweden

The departments of clinical genetics at Swedish university hospitals work closely with the clinics concerned.

Biochemical diagnoses are made at the Laboratory for Clinical Chemistry and Neurochemistry, Sahlgrenska University Hospital, Gothenburg, SE-413 45 Sweden, and at The Center for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, SE-171 76 Stockholm, Sweden.

Resource personnel

Associate Professor Ulrika von Döbeln, The Center for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, SE-171 76 Stockholm, Sweden. Email: ulrika.vondobeln@karolinska.se.

Senior Physician Professor Christopher Lindberg, Neuromuscular Centre, Sahlgrenska University Hospital, SE-413 45 Gothenburg, Sweden. Email: christopher.lindberg@vgregion.se.

Senior Physician Björn Lindvall, Muscle Centre, Örebro University Hospital, SE-701 85 Örebro, Sweden. Email: bjorn.lindvall@orebroll.se.

Associate Professor Jan-Eric Månsson, Neurochemistry laboratory, Sahlgrenska University Hospital, SE-413 45 Gothenburg, Sweden. Email: jan-eric.mansson@vgregion.se.

Senior Physician Karin Naess, Paediatric Neurology and Habilitation, The Astrid Lindgren Children’s Hospital and The Centre for Inherited Metabolic Diseases, Karolinska University Hospital, SE-171 76 Stockholm, Sweden. Email: karin.naess@karolinska.se.

Associate Professor Göran Solders, Neurology Clinic, Karolinska University Hospital, Huddinge, SE-141 86 Stockholm, Sweden. Email: goran.solders@karolinska.se.

Professor Már Tulinius, Uppsala University Children’s Hospital, SE-751 85 Uppsala, Sweden. Email: mar.tulinius@kbh.uu.se.

Courses, exchanges of experience, recreation

The Scandinavian Association for Glycogen Storage Disease, SAGSD, organizes conferences for both patients and healthcare professionals, www.worldgsd.org.

Organizations for the disabled/patient associations etc.

The Scandinavian Association for Glycogen Storage Disease, SAGSD, was founded in Sweden and is a Scandinavian network for people with glycogen storage diseases and their relatives. Contact Marcus Landgren. Email: postmaster@sagsd.org, www.sagsd.org.

There is also an international association:

The International Pompe Association, www.worldpompe.org. The Swedish contact is Hans Lundahl, Båtakåsvägen 13, SE-311 92 Falkenberg, Sweden. Tel: +46 70 336 54 32, email: hans.lundahl@telia.com.

There is also a US patient association:

Acid Maltase Deficiency Association (AMDA), P.O.Box 700248, San Antonio, Texas 78270-0248, USA, www.amda-pompe.org.

RBU, The Swedish National Association for Disabled Children and Young People, St Eriksgatan 44, Box 8026, SE-104 20 Stockholm, Sweden. Tel: +46 8 677 73 00, fax: +46 8 677 73 09, email: info@rbu.se, www.rbu.se.

Neuro Sweden, Box 49084, St Eriksgatan 44, SE-100 28 Stockholm, Sweden. Tel: +46 8 677 70 10, email: info@neuroforbundet.se/in-english/, www.neuroforbundet.se.

Courses, exchanges of experience for personnel

The Scandinavian Association for Glycogen Storage Disease, SAGSD, organizes conferences for both patients and healthcare professionals, www.worldgsd.org.

Research and development

Research involving animal trials is under way to identify ways of using gene therapy to increase the body’s enzyme production. Another study is examining the effects of enzyme therapy on different types of muscle fibres.

A diet containing a high proportion of protein and low levels of carbohydrates, in combination with various training programmes, has been tested on people with late-onset Pompe disease and respiratory failure. Results so far are inconclusive.

Information material

Short summaries of all the database texts are available as leaflets, in Swedish only. They can be printed out or ordered by selecting the Swedish version, and then clicking on the leaflet icon which will appear under, “Mer hos oss” in the column on the right-hand side.

Information in English can be found on the website of the International Pompe Association, www.worldpompe.org.


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Database references

OMIM (Online Mendelian Inheritance in Man)
Search: pompe disease

GeneReviews (University of Washington)
www.genetests.org (Select “GeneReviews”, then “Titles.”)
Search: glycogen storage disease type II (pompe disease)

Document information

The Swedish Information Centre for Rare Diseases produced and edited this information material.

The medical expert who wrote the original material is Professor Emeritus Gösta Samuelson, Uppsala University, Sweden.

The material has been revised by Associate Professor Göran Solders, Karolinska University Hospital, Stockholm, Sweden.

The relevant organisations for the disabled/patient associations have been given the opportunity to comment on the content of the text.

An expert group on rare diseases, affiliated with the University of Gothenburg, approved the material prior to publication.

Date of publication: 2014-04-16
Version: 2.0
Date of publication of the Swedish version: 2013-10-30

For enquiries contact The Swedish Information Centre for Rare Diseases, The Sahlgrenska Academy at the University of Gothenburg, Box 422, SE-405 30 Gothenburg, Sweden. Tel: +46 31 786 55 90, email: ovanligadiagnoser@gu.se.


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