Lysosomal Storage Disorders

Lysosomal Storage Disorders

Lysosomal storage disorder or lysosomal storage disorder is a group 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 organelles in cells that digest compounds such as carbohydrates and proteins. To carry out these functions, lysosomes need certain enzymes. If lysosomes lack enzymes , then compounds in the body can accumulate and become poison.

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, sufferers of this disorder get their disease from both parents who have the gene mutation.

Gene mutations that occur in lysosomal storage disorders cause the body to lack or even completely lack enzymes that break down compounds, such as proteins and carbohydrates. As a result, the compound accumulates in the body, then becomes poison and damages the body's organs.

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

Types and Symptoms of Lysosomal Storage Disorders

Symptoms of lysosomal storage disorders depend on the type. Below will be explained the types of lysosomal storage disorders along with their symptoms:

Fabry disease

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

  • Fever
  • The body has difficulty sweating
  • Diarrhea or even constipation
  • Pain, stiffness, or tingling in the limbs

Gaucher disease

Gaucher disease occurs when the body lacks the enzyme beta-glucocerebrosidase . The symptoms include:

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

Krabbe disease

Krabbe's disease occurs due to a lack of galactosylceramidase enzyme . The symptoms often appear in the first 6 months of the baby's age. The symptoms include:

  • Fever
  • Muscle weakness or stiffness
  • Loss of vision and hearing

Metachromatic leukodystrophy (MLD)

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

  • Disorders of muscle and nerve function
  • Difficulty speaking, eating, and walking
  • Loss of vision and hearing

Mucopolysaccharidosis (MPS)

Mucopolysaccharidosis is a disease caused by a lack of enzymes that digest glycosaminoglycans or mucopolysaccharides. The symptoms include:

  • Joint disorders
  • Learning disorders
  • Speech and hearing disorders

Niemann-Pick disease

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

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

Pompe disease

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

  • Muscle weakness
  • Children grow slowly
  • Enlargement of the liver and heart

Tay-Sachs disease

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

  • Red spot in the eye
  • Convulsions
  • Loss of vision and hearing

Symptoms of lysosomal storage disorders can appear from birth or develop during adulthood. Symptoms of this disease tend to worsen over time. The speed or slowness of the development of the disease depends on when the symptoms appear, the type of substance that accumulates, and the location of its accumulation in the body.

When should you go to the doctor?

Lysosomal storage disorders tend to strike in childhood. Therefore, consult a pediatrician if you suspect or see any abnormalities in your child.

Follow the routine immunization schedule based on the child's age . During immunization, the doctor will also check the child's overall health. That way, if there is an abnormality in the child, it can be detected earlier.

Lysosomal storage disorders can worsen over time. For this reason, people who have been diagnosed with this disease need to have a routine check-up with a doctor in order to prevent the development of the disease.

If you have a family that suffers from this disease and plan to have children, it is recommended to consult a geneticist. Genetic testing can measure the risk of this disease passing down to your child.

Diagnosis of Lysosomal Storage Disorders

Doctors can suspect that a patient is suffering from a lysosomal storage disorder if there are symptoms that have been 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 a number of the following examinations:

  • Blood test, to measure enzyme levels in the body
  • Urine test , to measure the amount of toxins that are excreted in the urine
  • Scanning with X-rays, USG, and MRI , to see abnormalities in organs in the body
  • Examination of a tissue sample ( biopsy ), to check the accumulation of toxins in the body's tissues

Supportive 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

The treatment of lysosomal storage disorders aims to slow down the progression of the disease, as well as help sufferers 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
  • Toxin reduction therapy, to reduce the accumulation 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 methods above, doctors can also perform other actions to help relieve symptoms. The actions given depend on the symptoms experienced by the patient, among others:

  • Giving medicines
  • Physiotherapy
  • Surgical procedures
  • Wash the blood

Be aware, lysosomal storage disorders cannot be cured. However, treatment done as early as possible can slow down the development of this disease later in life.

Complications of Lysosomal Storage Disorders

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 disorder is a disease caused by genetic abnormalities, so it is difficult to prevent. However, if you or your family suffer from this disease, it is recommended to do genetic testing. Genetic testing can show the magnitude of the risk of this abnormality decreasing in children.

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