Newborn Screening Tests

A genetic disorder that affects the normal development of the brain. Early detection allows for the prevention of disease symptoms, particularly in terms of nutrition.

Thyroid hormone deficiency, which can cause significant damage to a rapidly developing baby. If your baby is suspected to have a hormone deficiency, they will be referred to an endocrinologist for further testing and treatment. Early treatment with thyroid hormone replacement can help your baby develop normally.

A relatively common genetic disorder in Israel. If left untreated, some patients may experience a dangerous loss of sodium, which can be life-threatening. Treatment with medications and regular monitoring of sodium levels can prevent cardiac arrest or death and enable affected infants to live a normal life.

A combined deficiency means a deficiency of two essential cell types of the immune system, necessary in the body for an effective immune response to infections. Early detection of babies with immune system disorders prevents severe and recurrent infections, unnecessary hospitalizations, and death. The treatment includes preventive treatment and full recovery through hematopoietic stem cell transplantation.

In the severe form of the disease, there is a neurological deterioration at the age of about one week. If left untreated, patients may die at an early age. Early detection and treatment allow for a normal development of the baby.

In its severe form, homocystinuria may cause intellectual disability, retinal detachment, osteoporosis, and blood clotting problems. Treatment is through diet and supplementation with vitamins.

During the first six months of life, the condition becomes evident with symptoms like growth-related issues (FTT), restlessness, liver dysfunction, and impaired kidney function. Without proper treatment, it can lead to complications such as the development of malignant liver tumors and kidney failure, potentially resulting in a fatal outcome. Treatment includes a special diet and medications.

In its severe form, Methylmalonic Acidaemia manifests as intellectual disability, movement disorders, and osteoporosis. The primary treatment approach involves nutrition, including a special diet, food supplements, and vitamins.

In the severe form of the disease, the symptoms are appetite loss, vomiting, hypotonia (decreased muscle tone), fatigue, and dehydration. A third of the patients will suffer from seizures. If left untreated, a severe intellectual disability develops, as well as acute movement disorders. The primary treatment is nutritional and includes a special diet, food supplements, and vitamins.

Typically, there are no immediate symptoms after birth, but several months later, neurological deterioration may become apparent. Manifestations of the disease include an enlarged head circumference and a typical appearance, as diagnosed in a brain neuroimaging study. The primary treatment is nutritional and includes a special diet, food supplements, and vitamins.

A malfunction in the system designed to utilize amino acids as an alternative energy source when the body experiences a drop in sugar levels. Children with MACD will usually get sick in the first two years of life as a continuation of normal childhood diseases, such as colds or ear infections. Possible complications include breathing problems, seizures, cardiac arrest, and sudden death during sleep (similar to sudden infant death syndrome). The main treatment for MACD is to prevent the child from going without food for 10–12 hours. During illness, children should eat foods high in carbohydrates and sugary drinks.

Similar to MCAD deficiency, VLCAD deficiency is a malfunction that manifests at an earlier age and is often characterized by chronic muscle weakness. Fasting can trigger an episode, potentially leading to heart problems and, in some cases, even sudden death. The primary treatment for VLCAD deficiency involves preventing periods of fasting lasting more than 10 hours.

An inability to metabolize galactose, a sugar found in milk, and convert it into the body's required sugar for energy production (glucose). This can result in the accumulation of galactose in the bloodstream, which can be harmful or even fatal. Symptoms typically manifest after the introduction of breast milk or lactose-containing milk formula, and they may include drowsiness, diarrhea, vomiting, increased fatigue, jaundice, hypoglycemia, an enlarged liver, protein in the urine, heightened susceptibility to bacterial infections, cataracts, and more. The primary treatment approach involves a lifelong avoidance of milk consumption, which contains galactose sugar, or lactose.