Causes and symptoms of "Niman Beck's disease"

Neiman Peak disease is a genetic disorder that affects the metabolism of fats, or a method of storing fats and cholesterol in the body or extracted from it. People with the disease, Niman Beck, have abnormal lipid metabolism that leads to the accumulation of harmful amounts of fats in various organs, first on the liver, spleen, brain and bone marrow , this leads to the expansion of the spleen and to neurological problems, the disease is divided into type types "A", "B", "C" and "E". Originally, there was the type "D", but the search found that it was the type "C", the type A and the type B were called type 1, type C was type 2, type E was A less common version of Neiman Peak develops into adulthood and limbs differ from the symptoms and treatments affected depending on the type of Niman Beck disease. However, each species is severe and can reduce the life expectancy of the person.

What are the symptoms of Niman Beck's disease?

Type a

There are signs and symptoms of type A of Niman Beck's disease during the first months of life and include:

1 – swelling of the abdomen by enlargement of the liver and spleen, which usually occurs around the age of 3 to 6 months.
2 – swollen lymph nodes.
3. Spot like red cherry inside the eye.
4 – difficulty in nutrition.
5. Difficulty performing basic motor skills.
6- Muscle weakness.
7 – brain damage associated with other neurological problems, such as loss of reactions.
8. Pulmonary diseases.
9 – Frequent respiratory infections.

2. Symptoms of type B

Type B symptoms usually start late in childhood or adolescence, but do not include the movement difficulties that are normally found in type A, and signs and symptoms. Type B symptoms may include:

1. Abdominal swelling of the liver and spleen, which often begins in infancy.
2 – respiratory infections.
3. Low platelets.
4. Bad coordination.
5 – mental retardation.
6- Psychological disorders.
7- Peripheral nerve problems.
8. Pulmonary problems.
9 – high rate of fat in the blood.
10 – stunting, or inability to develop at a normal rate, causing lack of stature and eye abnormalities.

3 – Symptoms of gender c

Neiman Peak type C symptoms usually begin to appear in children about 5 years of age, but can occur at any time in life, from birth to adulthood.

Difficulty moving the limbs.
2. Increase in the size of the spleen or liver.
3. Jaundice or yellowing of the skin after birth.
Difficulty of learning.
5. Decrease in thought.
6. mental illness.
7 – epileptic seizures.
8. Difficulty speaking and swallowing.
Loss of muscle performance.
10. trembling.
11 – It's hard to move your eyes, especially when going up and down.
12. Difficulty walking.
13. Loss of sight or hearing.
14. Damage to the brain.
4 – Gender Symptoms e

Neiman Peak type A symptoms are common in adults. This type of research is very rare, but the signs and symptoms include swelling of the spleen or brain problems and nervousness, such as swelling of the nervous system.

What causes Neiman Beck's disease?

1. Types A and B.

Types A and B occur when acid sphingomyelinase (ASM) is not properly produced in white blood cells, an enzyme that helps eliminate fats in all the cells of the body.For the formation of sphingomylene, fats Eliminated by ASM can accumulate in your cells when the ASM is not broken. Properly, when the fat accumulates, the cells begin to die and the organs stop working properly.

2. Type "C"

Type C mainly concerns the body's inability to effectively remove excess cholesterol and other fats. It is now thought that it is a variant of type C and that type E is a rare type of Neem-Beck disease that occurs when adults do not know it big. thing.

How to diagnose Niman Beck's disease

Your doctor will analyze your child's blood or bone marrow to measure the amount of MSA in the white blood cells to diagnose types A and B of Niman Beck's disease. This type of test can help you determine if you or your child has Neiman Beck's disease. Once you have taken a sample, laboratory scientists will analyze how skin cells grow, store and move and store. Your doctor may also use a DNA test to look for Type "C" cause genes.

How to treat Niman Beck's disease

There is currently no known type A treatment and supportive care is beneficial for all types of Niman Beck disease. Type B has been used in many treatment options, including bone marrow transplants, substitution treatment and gene therapy. Neiman Beck's disease.