Lysosomal Storage Disorders - Symptoms, causes and treatment

Lysosomal storage disorder or lysosomal storage disorder is a collection of hereditary diseases that cause the body to lack certain enzymes. This condition can cause the formation of toxins in the body due to the accumulation of carbohydrates, proteins, or fats

Lysosomes are organs in cells that function to digest compounds such as carbohydrates and proteins. To carry out these functions, lysosomes require certain enzymes. If lysosomes lack enzymes, compounds in the body can accumulate and become toxic.

Lysosomal storage disorders are rare. It is estimated that this disorder occurs in 1 in 7000 births.

Causes of Lysosomal Storage Disorders

Lysosomal storage disorders are caused by mutations or changes in certain genes. In many cases, people with this disorder get the disease from both parents who have this gene mutation.

Gene mutations that occur in lysosomal storage disorders cause the body to lack or even completely lack the enzymes that break down compounds, such as proteins and carbohydrates. As a result, these compounds accumulate in the body, then become toxic and damage organs.

In some cases, a person can suffer from lysosomal storage disorders due to being inherited from only one parent. In this condition, the symptoms tend not to appear. However, that person can pass this disease on to their children.

Types and Symptoms of Lysosomal Storage Disorders

Symptoms of lysosomal storage disorders depend on the type. The following describes the types of lysosomal storage disorders and their symptoms:

Fabry disease

Fabry disease or Fabry disease occurs when the body lacks the enzyme alpha-galactosidase A. Symptoms of Fabry disease include:

• Fever
• The body is hard to sweat
• Diarrhea or constipation
• Pain, stiffness, or tingling in the legs

Gaucher disease

Gaucher disease or Gaucher disease occurs when the body lacks the enzyme beta-glucocerebrosidase. Symptoms include:

• Symptoms of lack of blood (anemia)
• bone pain to fracture
• Enlargement of liver and spleen

Krabbe disease

Krabbe's disease is caused by a deficiency of the enzyme galactosylceramidase. Symptoms often appear in the first 6 months of the baby's age. These symptoms include:

• Fever
• Weak or stiff muscles
• Loss of sight and hearing function

Metachromatic leukodystrophy (MLD)

Metachromatic leukodystrophy (MLD) is a disease that lacks the enzyme arylsulfatase A. Symptoms of MLD include:

• muscle and nerve function disorders
• Difficulty speaking, eating and walking
• Loss of sight and hearing function

Mucopolysaccharidosis (MPS)

Mucopolysaccharidosis is a disease caused by a deficiency of enzymes that digest glycosaminoglycan or mucopolysaccharide carbohydrates. Symptoms include:

• Joint disorders
• Learning disorders
• Speech and hearing impairment

Niemann-Pick disease

Niemann-Pick disease occurs when the body lacks the enzyme acid sphingomyelinase (ASM), or when the body is ineffective at digesting cholesterol and fat. Symptoms of this disease include:

• Respiratory disorders
• Enlargement of liver and spleen
• Yellow skin and eyes (jaundice)

Pompe disease

Pompe's disease is an alpha-glucosidase (GAA) deficiency disease. Some of the symptoms are:

• Weak muscles
• Slow growth of children
• Enlargement of liver and heart organs

Tay-Sachs disease

Tay-Sachs disease occurs when the body lacks the enzyme hexosaminidases. Symptoms of Tay-Sachs disease include:

• Red spots on eyes
• Seizure
• Loss of sight and hearing function

Symptoms of lysosomal storage disorders can appear from birth or develop as adults. Symptoms of this disease tend to get worse over time. The speed at which the disease progresses depends on when the symptoms appear, the type of substance that has accumulated, and the location of the accumulation in the body.

When to see a doctor

Lysosomal storage disorders tend to attack in childhood. Therefore, consult with your pediatrician if you suspect or notice that your child has an abnormality.

Adhere to the routine immunization schedule based on the child's age. During immunization, the doctor will also check the child's overall he alth. That way, if there are abnormalities in children, they can be detected early.

Lysosomal storage disorders may worsen over time. Therefore, people who have been diagnosed with this disease need to have regular check-ups with the doctor to prevent the disease from progressing.

If you have a family who suffers from this disease and are planning to have children, it is advisable to consult a geneticist. Genetic testing can measure the risk of passing this disease on to your child.

Lysosomal Storage Disorder Diagnosis

Doctors can suspect a patient suffering from lysosomal storage disorders if there are symptoms described above, accompanied by a history of the same disease in the patient's family members.

However, to be more sure, the doctor will perform the following checks:

• Blood test, to measure enzyme levels in the body
• Urine test, to measure the level of toxins that are wasted in the urine
• Scanning with X-rays, ultrasound, and MRI, to see abnormalities in organs in the body
• Tissue sample examination (biopsy), to check the buildup of toxins in body tissues

Supporting examinations can also be performed on pregnant women, to see if the fetus in the patient's womb suffers from the same disease.

Treatment of Lysosomal Storage Disorders

Treatment of lysosomal storage disorders aims to slow the progression of the disease, and help patients improve their quality of life.

Some of the treatment methods that can be given are:

• Enzyme replacement therapy, to overcome enzyme deficiency in the body
• Toxic reduction therapy, to reduce the build-up of toxins due to enzyme deficiency
• Stem cell transplantation, to stimulate the body to produce enzymes that are lacking in the body

In addition to the above methods, doctors can also take other measures to help relieve symptoms. The action given depends on the symptoms experienced by the patient, including:

• Medications
• Physiotherapy
• Surgery procedure
• wash blood

Please note, lysosomal storage disorders cannot be cured. However, treatment that is done as early as possible can slow the progression of this disease later in life.

Lysosomal Storage Disorder Complications

Over time, lysosomal storage disorders can become more severe and cause various complications, such as:

• Respiratory disorders
• Parkinson's Disease
• Deaf
• Blindness
• Paralysis
• Kidney failure
• blood cancer

Prevention of Lysosomal Storage Disorders

Lysosomal storage disorders are diseases caused by genetic disorders, so they are difficult to prevent.However, if you or your family suffer from this disease, it is advisable to do a genetic examination. Genetic testing can show how much the risk of this disorder is passed down to the child.