These disorders that are required by law to be tested for during newborn screening in New Jersey can be broken down into 7 different groups, each with its own causes, but most disorders have similar treatments and cause similar health problems. These groups of disorders are endocrine disorders, metabolic disorders, hemoglobinopathies, genetic disorders, fatty acid disorders, urea cycle disorders and organic acidemia.
Endocrine disorders that are screened for are congenital hypothyroidism and congenital adrernal hyperplasia and are caused by a deficiency of crucial hormones. This deficiency of crucial hormones can result in the infant suffering from mental retardation, a loss of body salt and water, abnoral growth, neurological problems, deafness and death. Treatment is available and usually includes monitorinng, hormone replacement and daily medication.
Metabolic disorders screened for during newborn screening in New Jersey are galactosemia, phenylketonuria, biotinidase deficiency and maple syrup urine disease and are caused when the enzymes required to break down amino acids are missing from the infant's body allowing these amino acids to collect in the infant's body. This collection of amino acids creates conditions such as mental retardation, developmental delays, seizures, hearing loss and even death. Treatment for these disorders require special diets, medication and close monitoring by the infant's doctor.
Newborn screening in New Jersery also includes Hemoglobinopathies, which includes sickle cell disease. Hemoglobinopathies occur when red blood cells do not form correctly and cause the infant to suffer from severe pain, serious infections and anemia. Treatment for these disorders are available and often include antibiotics and blood transfusions.
Cystic fibrosis is a genetic disorder that is also screened for in New Jersey. This disorder occurs when mucus collects in the infant's lungs and intestines. This build up of mucus can cause the infant to suffer from breathing problems, digestion problems and infections in the lungs. Treatment is available and includes a special diet and close monitoring by the infant's doctor.
Fatty acid oxidation disorders screened for are medium chain acyl-CoA dehydrogenase deficiency, short chain acyl-CoA dehydrogenase deficiency, long chain acyl-CoA dehydrogenase deficiency and very long chain acyl-CoA dehydrogenase deficiency. This disorder happens when the infant lacks the ability to convert fat into energy because an enzyme is either defective or is missing from the infant's body leading to the infant facing a medical crisis when the infant gets off of its scheduled feeding time. This medical crisis can result in vomiting, hypoglycemia and even coma. Treatment includes a special diet and close monitoring by parents, caregivers and doctors.
Urea cycle disorders screened for in New Jersey are argininosuccinic acidemia and citrullinemia. Infant's who test positive for these disorders can have mental retardation, behavioral problems, coma and death.. Treatment for these disorders are a special diet and medication along with close medical monitoring.
Organic acidemias are the last group of disorders that newborn screening in New Jersey covers. Among the disorders in this group are methylmalonic academia, propionic academia, isovaleric academia, glutaric academia type I, 3-hydroxy-3 methyl glutaryl-CoA lyase deficiency and 3-methyl-crontonyl-CoA carboxylase deficiency. Infants with one or more of these disorders can face hypoglycemia, vomiting, developmental delays and coma. Treatment is available and usually includes a special protein, vitamin suppplements, no fasting and regular medical monitoring.