Newborn Screening in New York

Newborn screening in New York covers many disorders, which, if not treated quickly, can cause life changing conditions, such as mental retardation or can even result in the death of the infant. The need for early detection that can lead to early treatment is very important in order to keep the infant from suffering from these health problems making newborn screening important. This newborn screening is required before any newborn is allowed to leave the hospital they were born in.

Hemoglobinopathies, one of the disorders included in this screening, includes sickle cell trait and sickle cell disease. Sickle cell trait occurs when an infant does not actually have sickle cell disease, but does carry the sickle cell trait. Sickle cell disease is a disorder of the oxygen carrying portion of red blood cells and can cause the infant to have severe infections, anemia, pain and organ damage. Treatment for sickle cell disease is pain medication, blood transfusions and penicillin treatment.

Endocrine disorders, also screened for in New York, includes congenital adrenal hyperplasia and congenital hypothyroidism. Congenital adrenal hyperplasia causes kidneys to lose an excessive amount of salt and can also cause newborn girls to be mistaken for newborn boys. Treatment for this disorder involves salt replacement, steroids and even hormone replacement therapy. Congenital hypothyroidism causes mental retardation and growth retardation, but is treated with thyroxine tablets to prevent this retardation from becoming any worse.

Amino acid disorders, another group newborns are screened for in New York, includes Homocystinuria, hypermethioninemia, branched-chained ketonuria, phenylketonuria and tyrosinemia. Homocystinuria causes mental retardation as well as circulation problems and vision loss, but can simply be treated with a special diet. Hypermethioninemia can cause severe muscle weakness leading to death if not treated. This disorder is also treated with a special diet. Branched-chain ketonuria, or maple syrup urine disease, can lead to death very quickly, usually within the first month of life. Even with treatment with a special diet, the infant may face mental retardation. Phenylketonuria causes brain damage resulting in mental retardation and can also be treated by a special diet. Tyrosinemia can cause liver and kidney failure, damaged nerves and death. This amino acid disorder is treated with a special diet combined with a drug treatment.

Fatty acid oxidation disorders are also screened for and include carnitine-acylcarnitine translocase deficiency, carnitine palmitoyltranferase I deficiency, carnintine palmitoyltransferase II deficiency, carnitine uptake defect, 2,4-dienoyl-CoA reductase deficiency, long-chain hydroxyacyl-CoA dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, medium-chain ketoacyl-CoA thiolase deficiency, medium/short-chain hydroxyacyl-CoA dehydrogenase deficiency, mitochondrial trifunctional protein deficiency, multiple acyl-CoA dehydrogenase deficiency, short-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency. Carnitine-acylcarnitine translocase deficiency can cause hypoglycemia, heart and liver damage, coma and death. Treatment for this disorder is a special diet and to avoid fasting. Carnitine palmitoyltransferase I deficiency can cause hypoglycemia, vomiting, sleepiness, seizures, coma and death. This is another disorder that is often treated with a special diet. Carnitine palmitoyltransferase II deficiency can be responsible for irregular heartbeats, muscle weakness, seizures, coma and death. Treatment for this disorder is also a special diet. Carnitine uptake defect has the ability to cause confusion, vomiting, coma and death and can be treated by using a special diet and medication. 2,4-dienoyl-CoA reductase deficiency is a disorder that can cause severe muscle weakness leading to death, even with treatment. Treatment for this disorder is a special diet along with a carnitine supplement. Long-chain hydroxyacyl-CoA dehydrogenase deficiency can be responsible for developmental delays, as well as liver, lung and heart failure that can result in death. Treatment for this disorder is also a special diet, supplements and avoiding fasting. Medium-chain acyl-CoA dehydrogenase deficiency causes hypoglycemia, seizures, liver failure, coma and death. Treatment for this disorder is a very strict schedule void of any fasting plus nutritional supplements. Medium-chain ketoacyl-CoA thiolase deficiency causes dehydration, vomiting and liver failure. Medium/short-chain hydroxyacyl-CoA dehydrogenase deficiency often causes hypoglycemia and receiving glucose is usually the treatment. Mitochondrial trifunctional protein deficiency can be responsible for hypoglycemia, liver dysfunction, heart failure and respiratory distress. Treatment for this fatty acid disorder is a special diet as well as a strict schedule. Multiple acyl-CoA dehydrogenase deficiency or glutaric acidemia type II can lead to hypoglycemia, liver problems, congenital anomalies and death. Treatment for this disorder also includes a special diet and a strict schedule. Short-chain acyl-CoA dehydrogenase deficiency can be responsible for infants suffering from breathing problems, failure to thrive, vomiting, dehydration, and seizures. Treatment, as with other disorders in this group, is a special diet. The last disorder in this group is very long-chain acyl-CoA dehydrogenase deficiency which can lead to hypoglycemia, liver and heart trouble and even death. Treatment for this disorder usually includes a special diet, strict feeding schedule and avoiding exercise.

Organic acid disorders are another group of disorders covered during newborn screening in New York. This group has fifteen disorders tested for, which are cobalamin A,B cofactor deficiency, cobalamin C,D cofactor deficiency, glutaric acidemia type I, 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, isobutyryl-CoA dehydrogenase deficiency, isovaleric acidemia, malonic acidemia, 2-methylbutyryl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 3-methylglutaconic acidemia, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, methylmalonyl-CoA mutase deficiency, mitochonodrial acetoacetyl-CoA thiolase deficiency, multiple carboxylase deficiency and proprionic acidemia. Cobalamin A,B cofactor deficiency can cause an infant to suffer from an acid-base balance in the blood, resulting in drowsiness, coma and death. Treatment for this organic acid disorder is liver and renal transplants, antibiotic therapy and a specialized diet. Cobalamin C,D cofactor deficiency can cause an infant to suffer from failure to thrive, development delays, vision loss, kidney failure, bone marrow problems, poor muscle tone and seizures. Treatment for this methylmalonic acidemia are a special diet and supplements. Glutaric acidemia type I can be responsible for brain damage, poor muscle tone, cerebral palsy and seizures. Treatment often includes a special diet and L-carnitine supplement. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency leads to hypoglycemia, failure to thrive and coma. Treatment for this disorder includes avoiding fasting and staying on a special diet. Isobutyryl-CoA dehydrogenase deficiency can be responsible for anemia along with heart problems. Treatment, like many other disorders, requires a special diet and avoiding fasting. Isovaleric acidemia can lead to brain damage, coma and death. Treatment is once again a special diet and avoiding fasting. Malonic acidemia can cause hypoglycemia, enlarged heart, poor muscle tone, vomiting, diarrhea, dehydration and seizures. Treatment for this disorder is also a special diet. 2-methylbutyryl-CoA dehydrogenase deficiency can cause drowsiness, hypoglycemia, poor muscle tone, mental retardation, vision loss and cerebral palsy. Treatment also includes a special diet. 3-methylcrotonyl-CoA carboxylase deficiency can cause liver failure, brain damage, seizures and coma leading to death. Treatment is the usual special diet, but can also include a supplement of biotin. 3-methylglutaconic acidemia can be responsible for physical and development difficulty, ranging from mild to severe and is treated with a special diet. 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency can be the cause of the infant's loss of motor skill along with epilepsy and mental retardation and treatment is the same, with a special diet. Methylmalonyl-CoA mutase deficiency can cause brain damage resulting in mental retardation, lethargy, dehydration and even death. Treatment for this organic acid disorder includes a special diet along with nutritional supplements and transplants when necessary. Mitochondrial acetoacetyl-Coalase deficiency or beta-ketothiolase deficiency can lead to brain damage, coma and on to death. Treatment is also a special diet along with supplements of biocarbonate. Multiple carboxylase deficiency causes brain damage, coma and leads to death, while treatment for this disorder is a biotin supplement. Propionic acidemia, the last disorder in this group, can be responsible for the infant suffering from brain damage, seizures, coma and death. Treatment for this disorder generally includes a special diet along with antibiotics and a strict feeding schedule.

Urea cycle disorders are also included in the newborn screening that occurs in New York. This group includes argininemia, argininosuccinic acidemia, citrullinemia and hyperammonemia/hyperornithinemia/homocitrullinemia. Argininemia is a disorder that can cause mental retardation, hyperactivity, psychomotor retardation, failure to thrive and growth failure. Treatment for this disorder usually includes a low-protein diet along with supplementation. Argininosuccinic acidemia can be responsible for the infant suffering from mental and physical retardation, seizures, drowsiness and coma. Treatment is also a low-protein diet and supplementation. Citrullinemia can be responsible for brain damage, seizures, coma and death, while treatment is usually a special diet and supplements. The last disorder in this group is hyperammonemia/hyperornithinemia/homocitrullinemia and can cause mental retardation, seizures, confusion and problems with muscle movements. Treatment for this disorder is a special diet and supplementation.

There are other disorders that are tested for during newborn screening in New York that do not fit into any of the previous groups of disorders. These are biotinidase deficiency, cystic fibrosis, galactosemia, Krabbe disease and HIV. Biotinidase deficiency can cause an infant to have serious infections, hearing and vision loss, skin rashes, brain damage, coma and even death. Treatment for this disorder is a daily biotin supplementation. Cystic fibrosis is an inherited disorder that causes severe lung infections, digestive trouble, failure to thrive and can even result in death. Treatment for this disorder is complicated, but can include medications and supplements prescribed by a doctor. Galactosemia is a disorder that can cause damage to vital organs, vision loss, mental retardation, severe infection and can lead to death. Treatment generally includes a special diet. Krabbe disease is a disorder that affects the infants nervous system and treatment generally includes a bone marrow transplant. HIV or human immunodeficiency virus is the virus that cause AIDS.