Most Common Metabolic (Congenital) Diseases

Metabolic diseases are problems that are congenital and usually occur during the synthesis of protein, carbohydrates, fatty acids or due to the deficiency of some building materials. The presence of these diseases may not manifest itself immediately, so the baby should be screened as soon as he is born.

In this article, we talked about the most common metabolic diseases for your information. By the way, some of these diseases also show hereditary features.

celiac disease

Celiac disease, also known as gluten enteropathy, is a sensitivity to grains, primarily wheat. Usually 6-12 in babies. occurs within months. In this disease;

  • Faulty nutrient absorption,
  • Anorexia,
  • abdominal swelling,
  • Diarrhea with a persistent foul-smelling and greasy appearance is present.

Over time, the problem of anemia due to celiac disease may also occur. In addition, there may be developmental delay due to digestive problems.

The most important treatment for celiac disease is to follow a grain-free diet.

Cerebral palsy (Cerebral Palsy)

Cerebral palsy, which begins to appear at birth, is a condition in which the musculoskeletal system does not work properly due to damage to the brain. In this disease, the baby;

  • Has difficulty moving.
  • She can’t hold her mother’s breast.
  • It constantly drools involuntarily.
  • Has difficulty moving voluntarily.
  • Experiences involuntary muscle tremors.
  • He can use his hands a little in the future, but has difficulty using his feet.
  • Muscle tone is very weak.
  • Motor development is very slow.

Unfortunately, there is no cure for cerebral palsy. However, with the application of physical therapy and the use of various medical products, the child can be adapted to life.

Cleft lip or palate (rabbit lip)

It is a condition in which part of the upper lip or palate cannot develop. In some cases, only the lip is cleft, while in others, both the lip and palate are cleft. It occurs mainly due to folic acid deficiency.

In this disease, weight gain and development problems are seen as the baby will have difficulty in sucking. However, this problem can be solved with surgical intervention. The results of the surgery are usually very successful.

Cystic fibrosis

Cystic fibrosis is a disease that occurs in the glands of the baby’s body. In cystic fibrosis, the sweat glands are most affected, and therefore the baby sweats a lot, his sweat is quite salty. This can lead to dry skin, dehydration and shock.

If the problem is in the respiratory system, the fluids that fill the lungs cause a chronic cough.

In the case of cystic fibrosis in the digestive system, mucus secretion increases, making it difficult to defecate and intestinal obstruction may occur. When there is a problem in the pancreas, fats and protein cannot be digested. The stool contains these substances, it becomes too much and foul-smelling.

As a result of all these, the baby cannot gain weight, his stomach is swollen and tense.

Cystic fibrosis treatment does not completely eliminate the disease, but relieves the symptoms. Treatment usually includes nutritional supplements, diet and some surgical interventions.


It is a condition in which the fluid in the skull increases pressure and then the head grows. It is a disease that can be recognized immediately after birth. It is often seen with spina bifida.

Hydrocephalic babies;

  • Neck muscles are underdeveloped.
  • Its eyes are large and protruding outward.
  • Their cries are in the form of high-pitched screams.
  • They experience loss of appetite and vomiting.

The treatment is done by regularly removing the fluid accumulated in the brain. With this procedure, the size of the head gradually normalizes. However, early intervention is very important.


It occurs as a result of the inability to synthesize the protein called phenylalanine. Therefore, phenylalanine accumulates in the bloodstream and affects brain development, causing mental retardation. There is no problem in the external appearance of the baby with phenylketonuria. For this reason, all babies are screened as soon as they are born. However, later in the baby;

  • Moodiness,
  • dry skin,
  • Debris,
  • A musty-like odor can be seen on the body.

Early diagnosis helps the baby lead a normal life. Treatment is carried out with the use of drugs containing phenylalanine and a special diet.

Stenosis pylorus

It is manifested by the excessive expansion and thickening of the muscles in the baby’s stomach and causing congestion in the lower part of the stomach. Symptoms of pyloric stenosis appear when the baby is 2-3 weeks old. Constipation and vomiting such as gushing are the most important symptoms. There is also fluid loss due to vomiting.

The treatment of pyloric stenosis is by surgical intervention. It gives mostly successful results.

sickle cell anemia

It is a type of anemia that occurs because the round blood cells take the shape of an interesting sickle and cannot carry out the oxygen-carrying process to the body correctly and get stuck in the veins and become blocked. In this disease;

  • Weakness,
  • Shortness of breath,
  • joint swelling,
  • Bone pain is seen.

Symptoms do not appear before 6 months. For this reason, the baby should be screened after birth.

In the treatment of sickle cell anemia, there are situations such as daily penicillin administration, painkillers, oxygen, and fluid supplementation. In this way, most of the symptoms are relieved.


It occurs due to the inability to digest the galactose enzyme found in milk and dairy products. In this case, the galactose accumulating in the body begins to damage the internal organs. It is a hereditary disease, it is definitely found in the mother or father.

Since breast milk or formula contains galactose, babies have problems as long as they are fed with these products. The most important symptom of the disease is jaundice. In the following periods, liver, kidney disorders and eye problems may occur.

Treatment of the disease is provided by a galactose-free diet.

Spina Bifida

It occurs when the spine, which is open before birth and should be closed in the following days, does not close. In this case, the spinal fluid begins to leak, cysts form around it, wounds and paralysis may occur. Urine and stool control can be difficult. Hydrocephalus may also be seen.

If the opening is very small, no treatment is required. However, if the opening is dangerous, various surgeries may be required. However, if paralysis has occurred, it cannot be expected to disappear completely. There may be needs such as physical therapy and a wheelchair.

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