Storage Disease

By | June 10, 2022

The term storage disease refers to a group of diseases characterized by deposits of various substances in organs or cells. Storage diseases include, for example, lipidosis or hemosiderosis.

What is storage disease?

Storage diseases can occur in different forms and manifestations. What all diseases have in common, however, is that substances are stored in cells and organs. Depending on the deposit location and the substance, different symptoms arise. In the case of glycogenosis, glycogen stored in the body tissues is only incompletely broken down. Glycogenoses include, for example, Hers’ disease or Pompe’s disease. For definition of hemihypertrophy in English, please visit

In mucopolysaccharidoses (MPS), glycosaminoglycans accumulate in the lysosomes. MPS therefore belong to the group of lysosomal storage diseases (LSK). These include Hunter syndrome or Sanfilippo syndrome. The collective term lipidosis covers hereditary metabolic diseases that are associated with an abnormal accumulation of fats in tissue and cells.

Typical lipidoses are Wolman’s disease and Niemann-Pick disease. Sphingolipidoses are inherited storage diseases in which there is an accumulation of sphingolipids in the cells. Fabry disease or Gaucher disease are sphingolipidoses. The most well-known storage diseases include hemosiderosis. In hemosiderosis, iron is deposited in the body. In the case of amyloidosis, there is an intracellular and an extracellular deposition of protein fibrils.


Many storage diseases are hereditary. Glycogen storage diseases are usually based on an enzyme defect. In von Gierke’s disease, for example, the glucose-6-phosphatase is damaged, in Tarui’s disease it is the phosphofructokinase. The majority of mucopolysaccharidoses are also inherited. There is a lack of enzymatic cleavage of the glycosaminoglycans and thus an accumulation in the lysosomes of the body cells.

Many lipidoses are based on a reduced or defective function of the lysosomes. Therefore, the liposes are assigned to the lysosomal storage diseases. Mutations in genes encoding lysosomal enzymes result in a complete loss of activity. This disturbs the fat metabolism and the lipids accumulate in the tissue.

Like liposes, sphingolipidoses are also based on lysosomal enzyme defects or enzyme deficiencies. Hemosiderosis can be acquired or congenital. Acquired hemosiderosis occurs as a result of increased iron intake. Blood transfusions or transfusions of erythrocyte concentrations in particular can cause increased deposits of iron in the body. Hereditary hemochromatosis, on the other hand, is an autosomal recessive hereditary disease.

Symptoms, Ailments & Signs

The symptoms of glycogen storage diseases are quite varied. Enlargement of the heart, liver or kidneys occurs. Those affected are often hypoglycemic. Blood lipid levels are elevated. Hyperuricemia can also occur. As the disease progresses, hemorrhagic diatheses often develop.

In hemosiderosis, toxic cell damage occurs due to iron deposits in the organs. In the liver, hemochromatosis leads to cirrhosis. The risk of liver cancer also increases significantly. Fibrosis in the pancreas leads to a lack of insulin and thus to diabetes mellitus. In the heart, iron storage leads to cardiac arrhythmias and, in the worst case, to cardiac insufficiency.

A so-called pseudogout develops in the joints. In men there is a risk of infertility. Amyloidoses are associated with increased protein excretion in the urine ( proteinuria ), neuropathies, dementia, liver enlargement, hair loss and joint problems.

The liposes also cause swelling of the liver and spleen. Furthermore, a psychomotor degradation can be observed. Developmental disorders , hearing loss and spasticity already occur in children within the first year of life.

Diagnosis & course of disease

The first indications of the presence of a storage disease are provided by the mostly quite characteristic symptoms. Depending on the suspected diagnosis, various examinations are carried out. Imaging methods such as X-rays, ultrasound, CT or MRT provide indications of damage to the organs or organ enlargement. Various blood parameters such as glucose, creatine kinase, iron or proteins can be determined in laboratory diagnostics.

Which parameters are determined in the laboratory depends on the suspected diagnosis and the symptoms present. A biopsy of the affected organs and tissues can often confirm the diagnosis. In amyloidosis, for example, the biopsy shows the phenomenon of the ham spleen. The appearance of the sliced ​​spleen is reminiscent of a sliced ​​ham due to the inclusion of the protein fibrils.


As a rule, the exact complications and symptoms of the storage disease depend very much on its severity and also on which components cannot be stored in the cells. For this reason, a general prediction is not possible in most cases. However, those affected suffer from severe enlargement of the liver or heart as a result of the disease, so that pain can occur in these organs. The kidneys can also be affected by enlargement.

As the disease progresses, the liver becomes damaged and the patient dies. Cardiac rhythm disturbances also occur and those affected can suffer from cardiac insufficiency. In many cases, the storage disease also leads to psychological problems and developmental disorders. The disease can cause serious problems, especially in children.

The treatment of storage disease always depends on the underlying disease. There are no particular complications. However, if the organs have already been damaged, transplantations or surgical interventions may be necessary. The life expectancy of those affected may be significantly reduced.

When should you go to the doctor?

A storage disease should always be examined and treated by a doctor. Since such a disease does not heal itself, it is necessary to consult a doctor. Only proper medical treatment can prevent further complications. In most cases, the patient with a storage disease needs lifelong treatment.

A doctor should be consulted if there are problems with the internal organs. In most cases, the patient’s blood values ​​deviate from the normal values. This can also affect the heart, and in the worst case it can even lead to complete insufficiency, which leads to death. In many cases, hair loss can indicate a storage disease, with children in particular suffering from developmental disorders or even spasticity. If these symptoms occur, a doctor must be consulted in any case.

A storage disease can be recognized by a general practitioner. The further treatment itself then depends on the exact symptoms and their severity and is carried out by a specialist.

Treatment & Therapy

The therapy depends on the underlying disease. Hereditary hemochromatosis, for example, is treated with bloodletting therapy. Blood donation can also be carried out regularly instead of bloodletting. Alternatively, the drug deferoxamine is used. A low-iron diet can also have a positive effect on the course of the disease. If detected early, patients with hemochromatosis have a normal life expectancy.

Amyloidoses are treated medically with diuretics, ACE inhibitors, CSE inhibitors and amiodarone. Patients may also need dialysis. It may also be necessary to insert a pacemaker. A causal therapy is often not possible in the case of lipid doses. Depending on the form, the patients die in childhood.

Symptomatic therapy aims to prevent the absorption and accumulation of fats and cholesterol. Statins, for example, are used for this. In the case of many storage diseases, it is important that therapy is started before the onset of the first symptoms. In this way, the course of the disease can often be positively influenced. Very few storage diseases are curable.


Since most storage diseases are inherited, prevention is not possible. Only acquired hemosiderosis can be prevented by controlled transfusions and a coordinated supply of iron.


In most cases, the options for direct follow-up care in the case of a storage disease are limited. In many cases, the disease itself cannot be treated causally, since it is very often a genetic disease. Therefore, the person concerned should ideally consult a doctor very early on.

If you want to have children, you should first carry out a genetic examination and counseling to prevent the storage disease from reoccurring. Self-healing is also not possible, so the person affected should contact a doctor as soon as the first symptoms and signs of this disease appear. In most cases, this disease can be alleviated relatively well by taking various medications.

Regular intake and the prescribed dosage must always be observed in order to properly limit the symptoms. Likewise, if you have any questions or side effects, you should always consult a doctor first. Regular checks and examinations are also very important in order to regularly check the current status of the storage disease. If the storage disease is treated, the patient’s life expectancy is usually not reduced.

You can do that yourself

In everyday life, any situation of overload or physical exertion should be avoided. At the first sign of being overwhelmed, the person concerned needs rest and protection. Taking regular breaks helps to prevent any discomfort. The disease presents a challenge for the organism to cope with.

Within the framework of self-help, everything should therefore be done to create situations of relief. Stressors are to be avoided and emotional stability is important. Both help to reduce cardiac arrhythmia to a minimum. At the same time, the pressure on organs or functions of the organism decreases. Relaxation techniques such as yoga or meditation help to create inner stability.

If the disease progresses unfavorably, the life expectancy of the person affected is reduced. The person concerned should therefore obtain sufficient information in advance about possible developments and take any necessary precautions. As a result, mental states of overload may be reduced.

The diet should be checked and optimized if necessary. The intake of fats and cholesterol should be avoided, as these lead to an increase in symptoms. A healthy and balanced diet helps to alleviate the health problems. In addition, sufficient exercise in fresh air is also beneficial for stabilizing the body’s defense system.

Storage Disease