Sometimes specific enzymes that help break down a few particular types of lipids may be found lacking in humans. In such a situation, the person may suffer from Krabbe disease.

This is a genetic disorder. Most patients diagnosed with Krabbe disease develop this disorder during infancy. However, it can grow significantly over time, and it can even damage the entire nervous system, if not destroy it.

Typically, the patients diagnosed with Krabbe may suffer from different neurological symptoms. If ignored, they may eventually succumb to death. Especially in the case of infants, the mortality rate within two years of developing the condition is very high, up to 90%.

How Are Patients Diagnosed with Krabbe Disease

Diagnosis of people suffering from this specific disorder can be varied. In most of conditions, it involves screening. This is a specific procedure that involves testing a skin or blood sample to measure the GALC enzyme.

There are also a few other additional tests performed by the doctor, which include:

  • CT scan
  • Electroencephalography or EEG
  • Electromyography or EMG
  • MRI or Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy
  • Brain biopsy
  • Genetic tests
  • Ear and eye tests
  • Lumbar puncture test to find the elevated level of CSF protein
  • Nerve Conduction Velocity test
  • Chorionic villus and amniocentesis sampling tests.

After such tests, it is seen that patients diagnosed with Krabbe disease typically have:

  • Brain shrinkage
  • Demyelination
  • Existing globoid cells and
  • Damages oligodendroglial cells.

Treatments For Krabbe Disease

There is no specific treatment for people suffering from acute Krabbe Disease. Only a few are available, but they are restricted to infants with little or no symptoms.

The treatment processes include:

  • HSCT and
  • CBSCT.

Diagnosis of Gaucher Disease and Symptoms

As for Gaucher Disease, doctors usually conduct a blood test on the patient suffering from it. They see the level of enzymes in the body.

Sometimes, a DNA test may also be done using blood or saliva.

Usually, there are no definite gaucher disease symptoms, but that does not mean it is less risky. One of the most significant risks is that the carriers may pass it to the children.

Treatment and Management

The type of Gaucher disease determines whether or not it can be treated. Usually, Type 1 Gaucher disease with low symptoms can be cured with regular treatment. In this process, the main objective is to either reduce the fatty substances or augment the level of enzymes in the body of the carrier of this disease.

The treatment processes for Type 1 Gaucher disease are:

  • Enzyme Replacement Therapy or ERT and
  • Substrate Reduction Therapy or SRT.

There are no specific treatments for Type 2 and 3 Gaucher disease.

The sad part is that there is no way one can prevent this particular disease, especially if a person has the gene mutations. Therefore, if you ever feel at risk, always go for a test.

Though this may not prevent it from happening, it can at least ensure that the Type 1 Gaucher disease does not damage your organs and bones.

 

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