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 Galactosomal
Galactosomal
منتظر شده در 1400/02/19

It is a group of inherited disorders that impair the body's ability to process and produce energy from a sugar called galactose. Undigested sugars accumulate in the blood when people with galactosemia consume foods or fluids containing galactose. Galactose is found in many foods, including all dairy products (milk and anything made from milk), many milk powders, and some fruits and vegetables. It is one of the three enzymes involved in the breakdown and digestion of galactose, which can be caused by mutations in the genes that make these enzymes.


Galactosomal types


1. Classical galactosemia (type 1)
 The most common and severe types of galactosemia include liver dysfunction, susceptibility to infections, stunted growth, and cataracts.
2. Galactokinase Deficiency (Type 2)
This type of galactose usually only causes cataracts, which can be prevented and treated with treatment. Rarely, this type causes a brain-like tumor;
3. Galactose epimerase deficiency (type 3)
Some people with this type of galactosemia have no signs or symptoms, while others have symptoms similar to classical galactosides.


Galactosomal symptoms


If you are consuming lactose in breast milk or infant formula, your baby may have galactosemia symptoms in the first few days of life.

  •  Refusal to suck milk

  •  Vomit

  •  Jaundice (jaundice) of lethargy

  •  Cataracts

Even if children are treated at an early age, learning and developmental delays, as well as speech impairments, are common. Specific issues and rates vary from child to child, but may include the following:

  •  Learning disabilities

  •  Delay in language learning

  •  Speech problems are common (most children with classical galactosemia have speech disorders)

  •  Problem in mathematics

  •  Neurological disorders

  •  Problems with walking, balance, good motor tremors (affected by minority children and adults)

  •  Inability to coordinate voluntary movements (ataxia)

  •  Involuntary muscle contractions (vibration)

  •  Incorrect estimate of distance during muscle activity (dysmetria)

  • Ovarian failure

Galactosomal diagnosis

Diagnosis for a genetic or rare disease can often be challenging
Diagnostic tests for galactosemia disease include genetic testing. Newborn screening at birth is also a diagnostic tool for galactosemia disease. It is taken and tested for several diseases. Galactosomes are one of them.


Diet in galactosemia patients


A person with galactosemia should avoid foods containing milk and all dairy products, such as:

  • cow milk

  •  Butter

  •  yogurt

  •  Cheese

  •  Ice cream

  •  Foods containing casein

  •  Head

  •  Whey

  •  Whey solids

The baby can start eating solid foods from about 4 to 6 months. A child on a galactose-restricted diet can eat more protein-rich foods such as beef, chicken, and eggs, and more fruits, vegetables, and whole grains.
Because children with galactosemia cannot consume dairy products, their calcium levels may be very low. Taking a calcium supplement every day will help ensure you get enough calcium.


Galactosomal treatment


Speech therapy can help improve your child's communication skills.
Purposeful training sessions may be used to overcome the learning difficulties required.
Physiotherapy can increase muscle mobility and strength and help your child develop functional limitations.
Behavior therapy is an important process that focuses on managing emotional and behavioral problems. This treatment can also teach families how to help a child with galactosemia cope with the anxiety and frustration of following such a limited diet.
 
 

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