Pomegranate disease: symptoms, causes, treatment, etc. & bull; hello healthy

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Definition

What is Pompe disease?

Pompe disease or Pompe disease is a birth defect which is also referred to as a deficiency of GAA (acid alpha glucosidase) aka type 2 glycogenesis accumulation disease.

Pompe disease or Pompe disease is a disorder or defect in babies at birth that occurs due to a lack of production of the GAA enzyme. The GAA enzyme is supposed to break down complex sugars in the body.

When the enzyme production is less than optimal, there is an automatic buildup of complex sugars in the organs and tissues, especially muscles.

This condition can make organs and tissues in the body damaged and not function properly.

Pomegranate disease can cause muscles to become weak and difficult to breathe. However, some of the organs most often affected by Pompe disease or Pompe disease are the liver, heart, and muscles.

What are the types of Pompe disease?

According to the Cleveland Clinic, Pompe disease or Pompe disease can be divided into three types. Various types of Pompe disease or Pompe disease are as follows:

The classic form of Pompe's disease (classic infantile-onset)

Pompe disease or classic type of Pompe disease is a disorder that begins several months after the baby is born.

This type must be treated immediately. Because if left without treatment, this type of Pompe disease can cause babies to experience heart failure in the first year of life or it can be fatal.

The nonclassic form of Pompe's disease (non-classic infantile-onset)

This non-classic form usually appears when the baby is 12 months or 1 year old. Babies with this type of Pompe disease can experience muscle weakness, which can lead to serious breathing problems.

Most babies with this type of disease are likely to survive to an early age.

The slow form of Pompe's disease (late-onset)

Unlike the two previous types of Pompe disease, this last type is a form that is not obvious when a newborn is born but begins to appear in childhood, adolescence, or adulthood.

However, the severity of this type is generally less severe than the classic form and is less likely to affect the heart.

How common is this condition?

Pompe disease or Pompe disease is a rare birth defect or disorder.

Even so, this congenital defect or genetic disorder can make the muscle weakness worse over time.

In fact, it does not rule out, this congenital disorder can have a serious impact on the bodies of newborns and children.

Signs and symptoms

What are the signs and symptoms of Pompe disease?

Symptoms that appear, when symptoms appear, and the severity of symptoms of Pompe disease can vary for each baby and child who experiences it.

Various symptoms of Pompe disease or Pompe disease based on the type are as follows:

Symptoms of the classic form (classic infantile-onset)

Some of the symptoms of classic Pompe disease are:

• Weak muscles (myopathy)
• Weak muscle tone or contraction (hypotonia)
• Enlargement of the liver (hepatomegaly)
• Abnormalities in the heart organs
• It's hard to eat
• It is difficult for babies to gain weight
• Experiencing failure to thrive
• Experiencing respiratory problems
• Have hearing loss

Symptoms of the non-classic form (non-classic infantile-onset)

Some of the symptoms of non-classic Pompe disease are:

• Delayed motor skills. Take for example a baby can sit, a baby can roll over, a baby can stand, a baby can crawl, a baby can walk, etc.
• Muscles get weaker with age.
• The heart is getting abnormally enlarged (cardiomegaly), but babies generally don't have heart failure.
• Babies have problems with breathing.

Slow form symptoms (late-onset)

Some of the symptoms of slow pompe are:

• The muscles are getting weaker, especially in the legs
• Respiratory disorders
• An enlarged heart size
• It's hard to walk
• Muscle ache
• Often falls
• Frequent pulmonary infections
• Headache in the morning
• The body is limp during the day
• Weight loss
• Difficulty swallowing
• Hearing disorders
• Irregular heartbeat
• High levels of creatine kinase (CK), which are enzymes that help the body work and provide energy to body cells

There may be symptoms not listed above. If you suspect your baby and child has certain symptoms, contact your doctor immediately.

When to see a doctor?

Pompe disease or Pompe disease is a congenital defect or disorder that can cause symptoms according to its type.

If you see a baby having the symptoms above or other questions, consult a doctor immediately.

The health condition of each person is different, including babies. Always consult a doctor in order to get the best treatment regarding the health condition of your baby.

Cause

What causes pompe disease?

The cause of Pompe disease or Pompe disease is due to a mutation (change) in the GAA gene. GAA is a gene that functions in the production of the enzyme acid alpha glucosidase.

Launching from the U.S National Library of Medicine, the task of the acid alpha glucosidase enzyme is to break down glycogen into simple sugars called glucose.

Glucose is the main source of energy for body cells. When the production of the enzyme acid alpha glucosidase does not go well and properly, glycogen can accumulate in the body's cells.

The accumulation of glycosan in body cells can damage the function of organs and tissues, especially muscles, causing symptoms of Pompe disease.

Pomegranate disease or Pompe disease is a genetic disorder that can be inherited in an autosomal recessive pattern.

This means that a child can develop this one congenital defect if he / she gets the offspring of the disease due to one faulty GAA gene copy from each parent.

In other words, the child must inherit two GAA genes, one from the father and one from the mother. Children can also inherit only one gene from one parent, but this does not make the child experience the symptoms of Pompe disease.

Risk Factors

What increases the risk of getting Pompe disease?

The risk of a baby developing this disease is increased if they have two defective copies of the GAA gene from both parents.

If you want to reduce the risk factors that you and your baby may have, consult your doctor immediately.

Diagnosis and Treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

How to diagnose this condition?

Some of the symptoms of Pompe disease at first glance are similar to other health conditions. Therefore, the doctor can ask the following questions to confirm the baby's condition:

• Does the child often feel weak, fall frequently, have difficulty walking, running, climbing stairs, or getting up?
• Does the child have difficulty breathing, especially at night or when lying down?
• Does the child have frequent headaches in the morning?
• Does the child often feel weak during the day?
• What diseases have children experienced since they were young?
• Has anyone in your family experienced these symptoms?

The examination to get a diagnosis related to Pompe disease does not only involve babies and children who experience it, but also other family members.

The doctor will usually do a blood test to find out the acid alpha glucosidase enzyme in the blood. In addition, blood tests can also help to see if there is a mutation or change in the GAA gene that causes this disease.

Broadly speaking, if the doctor suspects that a child has Pompe disease, some of the tests that may be done are as follows:

• Examination of a muscle sample to check glycogen levels
• Examination of a blood sample to check for changes in genes
• DNA examination to determine genetic disorders that cause disease

Meanwhile, the diagnosis of this disease can actually be done before the baby is born. However, this can only be done if there are family members who experience it or genetic mutations (changes) are found.

What are the treatment options for Pompe disease?

The earliest possible care, especially for babies, is the main key to preventing further damage to the body due to Pompe disease.

Providing medication can help improve the health of the baby's body while extending the life expectancy.

Treatment for babies and children with congenital disorders is usually carried out by the medical team. The medical team includes a cardiologist, neurologist, nutritionist, physical therapist, occupational therapist, to therapist to help with breathing.

In addition, babies and children with genetic disorders are also usually advised to undergo alias enzyme replacement therapy enzyme replacement therapy (ERT).

Additional supportive therapy can also be given to help with symptoms and complications of the disease.

However, doctors will still adjust the main treatment depending on the health condition and the severity of the disease in infants and children.

Home Remedies

What are the lifestyle changes to overcome Pompe disease?

As with other diseases, life with the Pompe Misesase may not be easy for children.

So, as a parent, you can see a counselor or join a community with this disease to help you and your little one.

If you have any questions, consult your doctor for the best solution to your problem.

Hello Health Group does not provide medical advice, diagnosis or treatment.