Newborn Screening in Kansas

Newborn Screening in Kentucky is the program that allows parents and doctors the opportunity to discover health problems, usually before these disorders can cause permanent damage to the newborn. Often times these infant's will not have the appearance of an infant who has any type of disorder, making the screening even more important. If these disorders are left detected and untreated, the newborn can experience developmental delays, vision loss, brain damage and, unfortunately, death.

Newborn screening in Kentucky covers 30 disorders that can range in seriousness from mild to very seriouos, even life-threatening if not properly treated. Most of these disorders can be treated to the extent that the infant can lead a healthy, happy, normal life, even if the treatment continues throughout the infant's life. Early treatment is definitely the key to this treatment and the quality of life the infant is expected to lead.

3-Methylcrotonyl CoA carboxylase deficiency, an organic disorder, occurs when the amino acid leucine is not properly processed, causing the infant to suffer from brain damage, liver failure, seizures and can be life threatening. This disorder is treated with a low-protein diet.

Arginosuccinic acidemia, an amino acid disorder, occurs when the infant suffers a build up of argininosuccinic acid, leading to a build up of ammonia, caused the infant to suffer from brain swelling, coma and can be life threatening. This disorder is treated with a low-protein diet, staying on meal and snack schedule, medications, supplements and in more serious cases, liver transplant.

Beta ketothiolase deficiency, an organic disorder, occurs when the infant suffers an acid build-up in its body, causing brain damage, coma and can be life threatening. Intravenous treatments help the blood sugar levels of the infant up while keeping the blood acid levels down, allowing the infant to develop normally. Protein-rich diets and bicarbonate supplements can also be used as treatment foro this disorder.

Biotinidase deficiency, a genetic disorder, occurs when the infant's body lacks the enzyme responsible for recycling the vitamin biotin, causing developmental delays, hearing loss, seizures, coma and can be life-threatening. Treatment for this disorder is a biotin supplement.

Carnitine uptake defect, a fatty acid disorder, occurs when the infant's body does not have the ability to receive carnitine from blood, causing hypoglycemia, heart failure and can be life-threatening. Treatment for this disorder is a carnitine supplement taken daily for the remainder of the infant's life.

Citrullinemia, an amino acid disorder, occurs when the infant's body does not use the citrulline, thus leading to a build-up of ammonia in the infant's body. This build-up of ammonia in the infant's body can cause brain damage, seizures, coma and can be life-threatening if not treated. Treatment of this disorder includes a low-protein diet and medication.

Congenital adrenal hyperplasia, an endocrine disorder, occurs when the infant's body does not properly synthesize the hormones produced by the adrenal gland, causing female infants to have masculinization of the genitals as well as salt loss and can be life-threatening if not detected and treated. Treatment of this disorder includes salt and hormone replacement.

Congenital hypothyroidism, an endocrine disorder, occurs when the infant's has a thyroid hormone deficiency that causes developmental and brain development. Treatment for this disorder is with an oral dose of the missing thyroid hormone taken daily.

Cystic fibrosis, a genetic disorder, occurs when the infant's body produces too much mucous, causing lung and digestive disorders and can be life-threatening if left untreated. Treatment for this disorder is a high-caloric diet, vitamin supplements and medication.

Galactosemia, a metabolic disorder, occurs when the infant's body does not have the liver enzyme responsible for lactose breakdown in milk, causing the infant to suffer from damaged vital organs, mental retardation, blindness, infection and can be life-threatening if not treated. Treatment for this disorder is a diet void of milk and milk products.

Glutaric acidemia type I, an organic disorder, occurs when an infant's body is missing the enzyme that is responsible for breaking down lysine, hydroxylysine and tryptophan, resulting in the infant suffering from brain damage, low muscle tone, seizures and can be life-threatening if not treated. Treatment generally includes diets that are protein restrictive and supplements of L-Carnitine.

Hemoglobin S/β-Thalassemia disease, a sickle cell anemia, occurs when the infant inherits one sickle cell gene and one beta thalassemia gene, resulting in the infant suffering from pain, infections, gallstones, stroke and lung complications. Treatment for this disorder may includes pain medication and blood transfusions.

Hemoglobin S/C disease, another sickle cell anemia, occurs when the infant inherits one sickle cell gene and one other hemoglobin gene, may cause the infant to suffer from anemia. Treatment for this hemoglobin disorder may include pain medications, intravaneously administered fluids, blood transfusions and a bone marrow transplant.

Homocystinuria, an amino acid disorder, occurs when the infant lacks the enzyme responsible for converting homocysteine into cystathionine, causing the infant to suffer from mental retardation, skeletal abnormalties, seizures, eye problems and stroke. Treatment for this disorder includes a diet low in methionine and vitamin B6.

Hydroxymethylglutaric aciduria, an organic disorder, occurs when the infant's body lacks the ability to process leucine, causing the infant to suffer from hypoglycemia and the accumulation of organic acids as well as brain damage, mental retardation, coma and can lead to death. Treatment of this disorder involves no fasting and staying on a diet low in fat and protein while being high in carbohydrates.

Isovaleric acidemia, an organic disorder, occurs when the infant's body lacks the ability to process leucine, causing the infant to suffer from permanent neurological damage, coma and even death. Treatment for this disorder includes a low-protein diet and supplements.

Long-chain L-3hydroxyacyl-CoA dehydrogenase, a fatty acid disorder, occurs when the infant's body the ability to oxidize fatty acids, causing the infant to suffer with heart, lung and liver failure and can result in death. Treatment for this disorder includes a diet high in carbohydrate but low in fat as well as supplements and the avoidance of fasting.

Maple syrup urine disease, an amino acid disorder, occurs when the infant's body lacks the ability to break down leucine, isoleucine and valine, causing the infant to suffer from lethargy, urine that has a maple syrup odor, vomiting, seizures, coma and is life-threatening when left untreated. Treatment of this disorder is a low-protein diet and supplementing the vitamin, thiamin.

Medium-chain acyl-CoA dehydrogenase deficiency, a fatty acid disorder, occurs when the infant's body lacks the enzyme necessary to convert fat into energy, causing the infant to suffer from lethargy, hypoglycemia, metabolic acidosis, brain damage, seizures, cardiac arrest and can be life-threatening if not treated. Treatment for this disorder includes avoiding fasting and taking supplemental carnitine.

Methylmalonic aciduria, an organic disorder, occurs when the infant's body lacks the ability to metabolise vitamins, causing the infant to suffer from paralysis, brain damage, seizures and can be life-threatening. Treatments for this disorder often includes a diet low in protein and vitamin B12 injections.

Methylmalonic acidemia mutase deficiency, an organic disorder, occurs when the infant's body lacks the ability to process four essential amino acids, causing the infant to suffer brain damage and can be life-threatening if not treated immediately. Treatment for this disorder often includes vitamin B12 injections, low-protein diet and supplements.

Multiple carboxylase deficiency, an organic disorder, occurs when the infant's body lacks the enzyme responsible for preventing the build-up in the infant's body of lactic acid, causing the infant to suffer from skin rashes, hair loss, brain damage, coma and can be life-threatening if left untreated. Treatment for this disorder includes a biotin supplement.

Phenylketonuria, an amino acid disorder, occurs when the infant's body lacks the ability to process phenylalanine, which damages the brain when it accumulates, causing the infant to suffer mental retardation. Treatment for this disorder includes a diet that is low in phenylalanine.

Propionic acidemia, an organic disorder, occurs when the infant's body lacks the ability to process certain parts of protein and fats, causing the infant to suffer from loss of appetite, vomiting, lethargy, hypotonia, seizures, coma and can be life-threatening if left untreated. Treatment includes a protein restricted diet, addition fluids and electrolytes and even dialysis.

Short-chain acyl-CoA dehydrogenase deficiency, a fatty acid, occurs when the infant's body lacks the ability to oxidize fatty acids, causing the infant to suffer from hypoglycemia and a failure to thrive. Treatment of this disorder includes no fasting, a glucose IV and avoiding fatty acids.

Sickle cell disease, a hemoglobin disorder, occurs when the infant's body have cresent shaped red blood cells that have difficulty passing through small blood vessels and can block the blood vessel, causing a blockage. Infant's with this disorder suffer from anemia, jaundice and gallstones, organ damage and bacterial infections. Treatment for this disorder includes antibiotics, pain medications, intravenous fluids, blood transfusions and surgery.

Trifunctional protein deficiency, a fatty acid disorder, occurs when the infant's body has the inability to convert fat into energy by the trifunctional protien enzyme either missing or not working properly and may be responsible for an infant having heart failure, low muscle tone, seizures, coma and even death. Treatment of this disorder includes absolutely no fasting, a diet low in fat and nutritional supplements.

Tyrosinemia type I, an amino acid disorder, occurs when the infant's body lacks the enzyme responsible for removing succinylacetone, allowing it to build up in the infant's liver, causing the infant to suffer from liver or kidney failure, nerve damage and can even be life threatening. Treatment for this disorder includes a diet low in protein along with a drug treatment closely monitored by a doctor.

Very long-chain acyl-CoA dehydrogenase deficiency, a fatty acid disorder, occurs when the infant's body has the inability to oxidize fatty acids because the enzyme responsible for this procedure is either missing or malfunctioning causing the infant to suffer from hypoglycemia, cardiac arrest, brain damage, heart and liver damage, coma and death. Treatment for this order includes a diet high in carbohydrates and low in fat, nutritional supplements, avoiding all fasting and most exercising.

Newborn Hearing Screening is also included when newborn screening in Kentucky occurs because hearing problems can affect the infant in many ways, such as speech and language, which can lead to problems with academic success as well as emotional and social development. If these hearing problems are caught early enough, they can be corrected and the infant can lead a perfectly normal life.