The heel prick test is one of the main tests that the child performs right after birth. It detects six genetic or congenital diseases. When these changes are identified early, children can be treated and monitored, thus ensuring that they develop well and have quality of life.

They are progressive diseases, which may not manifest immediately, but if not detected and treated, they can even lead to death. The exam is simple. A hole is made in the child’s foot and blood is collected, hence the name of the test. The test can identify six diseases: phenylketonuria, congenital hypothyroidism, sickle cell disease, cystic fibrosis, biotinidase deficiency and congenital adrenal hyperplasia.

Ideally, the heel prick test should be performed between the 3rd and 5th day of the baby’s life.

Diseases detected:

Phenylketonuria  – It is one of the inborn errors of genetically inherited metabolism. The metabolic defect generated leads to the accumulation of the amino acid Phenylalanine (FAL) in the blood. Without early diagnosis and treatment before 3 months of life, the child with Phenylketonuria presents a clinical picture characterized by global delay in neuropsychomotor development (DNPM), mental deficiency, agitated behavior or autistic pattern, seizures, electroencephalographic changes and characteristic odor in the urine.

Congenital hypothyroidism  – It is a pediatric emergency caused by the inability of the newborn’s thyroid gland to produce adequate amounts of thyroid hormones, which results in a general reduction in metabolic processes. Without early diagnosis and treatment, the child will have seriously compromised mental growth and development. The treatment of the disease consists of replacement of deficient thyroid hormones.

Sickle cell disease and other hemoglobinopathies –  Sickle cell disease (FD) is caused by a defect in the structure of Hemoglobin, which causes red blood cells to assume the shape of a waning moon, when exposed to certain conditions such as high fever, low oxygen tension, etc. Genetic changes in hemoglobin are passed from generation to generation. The affected patient has the following clinical changes: hemolytic anemia, vaso-occlusive crises, pain crises, progressive renal failure, stroke, increased susceptibility to infections and splenic sequestration. Ideally, treatment should be started before the age of four months.

Cystic fibrosis – Cystic Fibrosis (CF) or Mucoviscidosis, as it is also known, is one of the hereditary diseases considered serious and especially affects the lungs and pancreas, in an obstructive process caused by the increased viscosity of mucus. In the lungs, this increase in viscosity blocks the airways, causing bacterial proliferation, which leads to chronic infection, lung injury and death from respiratory dysfunction. In the pancreas, when the ducts are blocked by thick secretions, there is a loss of digestive enzymes, leading to malnutrition. More serious symptoms and complications include malnutrition, diabetes, liver failure and osteoporosis. Other symptoms may include: difficulty in gaining weight, breathing problems, loss of salt through sweat, recurrent abdominal pain, prolonged jaundice,

Congenital adrenal hyperplasia  – Congenital adrenal hyperplasia (CAH) encompasses a set of genetically transmitted syndromes, which are characterized by different enzyme deficiencies in the synthesis of adrenal steroids. Early diagnosis and proper treatment improve the growth pattern and can normalize it in most cases. Clinical manifestations in CAH depend on the enzyme involved and the degree of enzyme deficiency (total or partial). Early diagnosis and proper treatment improve the growth pattern and can normalize it in most cases. Treatment must be continuous throughout life.

Biotinidase Deficiency  – Biotinidase deficiency (DBT) is an inherited metabolic disorder in which there is a defect in biotin metabolism. Clinically, it manifests from the seventh week of life with neurological and skin disorders such as epileptic seizures, hypotonia, microcephaly, neuropsychomotor development delay, alopecia and eczematoid dermatitis. In patients with late diagnosis, visual and auditory disturbances are observed, as well as motor and language delay. Drug treatment is very simple, inexpensive and consists of using biotin (vitamin) in daily doses.