Newborn Screening in Kansas

Newborn screening in Kansas is very important, especially during the first 24 to 48 hours after a child is born. This screening can determine if the newborn has health disorders that can cause mental retardation, brain damage, developmental delays, or can even lead to death. At this time, the State of Kansas only requires screening for seven disorders, but beginning July 1, 2008, the number of disorders screened for will increase to 29.

The seven disorders currently tested for during newborn screening in Kansas are Phenylketonuria, Galactosemia, Congenital Hypothyroidism, Hemoglobinopathies, Congenital Adrenal Hyperplasia, Biotinidase and Cystic Fibrosis.

Phenylketonuria, an amino acid disorder, occurs when the infant's body does not correctly process phenylalanine, allowing a buildup of this amino acid in the infant's body, causing brain damage. Treatment for this amino acid disorder commonly includes a special diet throughout the infant's childhood, adolescence and into adulthood.

Galactosemia is a disorder that is generally grouped in the "other" category or as a metabolic disorder. This disorder occurs when a liver enzyme responsible for converting lactose into galactose, a simple sugar that can be utilized by the infant's body, is missing and galactose is able to accumulate in the infant's body. This accumulation of galactose can cause damage to the vital organs, mental retardation, blindness, infections and death. Treatment for this disorder involves eliminating milk and other diary products from the infant's diet.

Congenital Hypothyroidism, is another disorder generally grouped into the "other" category or as an endocrine disorder, occurs when the infant's body does not produce thyroid hormones. This disorder can be responsible for poor brain and growth development resulting in mental retardation, developmental delays, poor growth, neurological abnormalities and deafness. Treatment is doctor prescribed drug therapy, usually with thyroxine.

Hemoglobinopathies are a group of disoders that include inherited diseases that affect the red blood cells of the infant, such as sickle cell anemia. These disorders can be responsible for anemia, pain, vital organ damage and serious infections. Treatment for hemoglobinapathies includes antibiotics and physician care.

Congenital Adrenal Hyperplasia is one more disorder grouped as either "other" or as an endocrine disorder. These disorders are caused by the adrenal gland's diability to create needed enzymes. Congenital Adrenal Hyperplasia can be responsible for the infant's body to produce an increased amount of androgen, which is a male hormone, and results in rapid growth, ambiguous genitalia and skeletal maturation and can be life threatening. Treatment of these disorders is a prescribed hormone replacement therapy.

Biotinidase, an inherited disorder that occurs when the vitamin Biotin is not produced properly by the infant's body, can be responsible for uncoordinated movement, mental retardation, hearing loss, seizures, coma and death. Treatment for this disorder is a daily prescribed dose of biotin.

Cystic Fibrosis, the most common inherited disorder, is caused by the infant's body producing an abundance of mucous that can be responsible for lung infections, developmental delays, sinus infections, a compromised immune system and even death. Treatment for this disorder is often antibiotics, insulin therapy, inhalational medications, enzyme rerplacement therapy, gene therapy and even transplatation.

The 29 disorders that the State of Kansas will be screening newborns for starting the first of July, 2008 can be placed in 5 groups. These groups are Amino acid metabolism disorders, Organic acid metabolism disorders, Fatty acid oxidation disorders, Hemoglobinopathies and Others.

Amino Acid Metabolism Disorders include disorders that are caused by the lack of an enzyme required to break down amino acids, which are the building blocks of protein, and by the lack of enzymes that are responsible for ridding the body of nitrogen found in amino acids. Disorders that will be screened for in this group are Phenylketonuria, Maple Syrup Urine Disease, Homocystinuria, Citrullinemia, Argininosuccinic Acidemia and Tyrosinemia Type I.

Organic Acid Metabolism Disorders include inherited disorders that are caused by the lack of enzymes responsible for breaking down proteins, lipids, sugars and steroids in the infant's body. These disorders, if left untreated, can cause toxic acids to collect in the infant's body, resulting in coma and death. Disorders that will be screened for in this group are Isovaleric Acidemia, Glutaric Acidemia Type I, Hydroxymethylglutaric Aciduria, Multiple Carboxylase Deficiency, Methylmalonic Acidemia, Methylmalonic Acidemia cblA and cblB forms, 3-Methylcrotonyl-CoA Carboxylase Deficiency, Propionic Acidemia and Beta-Ketothiolase Deficiency.

Fatty Acid Oxidation Disorders include inherited disorders that are caused by the inability of the enzymes responsible for converting fat into energy, causing brain and other organ damage which can lead to coma and death if left untreated. The disorders screened for in this group are Medium-chain Acyl-CoA Dehydrogenase Deficiency, Long-chain 3-OH Acyl-CoA Dehydrogenase Deficiency, Trifunctional Protein Deficiency and Carnitine Uptake Defect.

Hemoglobinopathies are inherited disorders of the red blood cells that are caused by the abnormalties of the cell shape and amounts of the hemoglobin causing problems with the red bloood cells that are responsible for transportation of oxygen through out the body. If left untreated, these disorders can cause pain, organ damage and even death. The disorders screened for in this group are Sickle Cell Anemia, Hb S/C Disease and Hb S/Beta-Thalassemia.

Other disorders newborns in Kansas are screened for include the disorders that do not fit in any other groups. These diseases can be either be genetic or not and can range from mild to life-threatening and include Congenital Hypothyroidism, Biotinidase Deficiency, Congenital Adrenal Hyperplasia, Classical Galactosemia, Cystic Fibrosis and Hearing Loss.