Newborn screening in Colorado includes 30 metabolic diseases along with hearing. This screening is important because if these disorders are caught quickly enough, the infant can usually be treated and allowed a relatively comfortable and normal life. But, if left untreated, most of these diseases have dire consequences for the infant, usually leading to death. For this reason, the State of Colorado has made newborn screening mandatory.
The 30 metabolic diseases tested for when newborn screening in Colorado occurs are classified into six sets of disorders. These disorders are Amino Acid Disorders, Endocrine Disorders, Fatty Acid Oxidation Disorders, Hemoglobin Disorders, Organic Acid Disorders, and other disorders.
Amino Acid Disorders occur when the infant’s body cannot process amino acids due to enzymes that are missing or are not working properly. When these amino acids cannot work properly, they build up in the body and become trouble for the infant. Diseases caused by these disorders are Argininosuccinic acidemia, Citrullinemia, Homocystinuria, Hypermethioninemia, Maple Syrup Urine Disease, Phenylketonuria and Tyrosinemia. If left untreated, infants with these disorders suffer mental retardation, skeletal abnormalities, vision problems, psychiatric disorders, behavioral disorders, strokes, high blood pressure, liver failure and death. Treatment of these diseases varies with the disease, but may include restricting the affected amino acid, maintaining a special diet or even dialysis.
Endocrine Disorders occur when the infant’s body does not correctly produce hormones necessary to carry on the functions of the infant’s body organs and tissues. Diseases included in this disorder are Congenital Adrenal Hyperplasia and Congential Hypothyroidism. These disorders can lead to overweight and obesity, osteoporosis, infertility, abnormal growth, diabetes, hypertension, high cholesterol levels, thyroid levels and pituitary hormone dysfunction. Treatment for these disorders usually includes hormone replacement or removing abnormal glandular tissue.
Fatty Acid Oxidation Disorders occur when the infant’s body cannot properly breakdown the fat they take in from their food because the enzymes responsible for this do not function properly. Diseases included in these disorders are Carnitine Acylcarnitine, Translocase Deficiency, Carnitine Palmitoyltransferase II Deficiency, Carnitine Uptake Defect, Glutaric Acidemia Type II, Long-chain L-3-OH Acyl-CoA Dehydrogenase Deficiency, Medium-chain Acyl-CoA Dehydrogenase Deficiency, Short-chain Acyl-CoA Dehydrogenase Deficiency, Trifunctional Protein Deficiency and Very Long-chain Acyl-CoA Dehydrogenase Deficiency. If Fatty Acid Oxidation Disorders are left untreated, the outcome generally includes hypoglycemia, SIDS, hepatomegaly, rhabdomyolysis, Reyes syndrome-like episodes and death. Treatment includes avoiding any fasting, receiving medical attention, receiving supplemental carnitine, remaining on a special low-fat diet and close glucose monitoring.
Hemoglobin Disorders occur when the infant’s body parts do not get enough oxygen. This occurs when there are not enough red blood cells or when the hemoglobin levels are low in the infant’s body. The diseases associated with this disorder are Beta Thalassemia, Thalassemia Major, Sickle Cell Disease and Hemoglobin SC Disease. If left untreated, these diseases can cause anemia, abnormal growth, jaundice, delayed puberty, bone abnormalities, repeated infections, pain, organ damage, high blood pressure and death. Treatment depends on the particular hemoglobin disease that the infant has, but generally includes blood transfusions, treatment with a chelating agent, a splenectomy, appropriate vaccinations and penicillin.
Organic Acid Disorders occur when the enzymes in the infant’s body do not process the protein from the infant’s food properly. The diseases associated with Organic Acid Disorders are 3-Hydroxy 3-methyl glutaric aciduria, 3-Methylcrotonyl-CoA carboxylase deficiency, 3-Methylglutaconic aciduria, Beta Ketothiolase Deficiency, Glutaric acidemia type I, Isovaleric acidemia, Methylmalonic acidemia-mutase deficiency, Methylmalonic acidemia, Multiple carboxylase deficiency and Propionic acidemia. If left untreated, these diseases can cause seizures, brain swelling, hair loss, learning difficulties, ataxia, spasticity, hearing loss, infections, rashes, vision problems, coma and death. Treatment of these disorders often includes a prescribed amount of biotin.
Other disorders covered in newborn screening in Colorado are Biotinidase Deficiency, Cystic Fibrosis and Galactosemia.
Biotinidase Deficiency occurs when the infant’s body does not produce biotin causing the infant to suffer with seizures, developmental delays, hair loss, ataxia, spasticity, hypotonia, rashes, infections and vision problems. This disease is treated with oral biotin given daily for life.
Cystic Fibrosis occurs when the infant’s body produces to much mucous, leading to a compromised immune system, lung infections, sinus infections, developmental delays, infertility, and an early death. Treatment for this disease includes antibiotics, inhalational medications, insulin therapy, enzyme replacement therapy, transplantation and gene therapy.
Galactosemia occurs when the infant’s body fails to metabolize galactose, leading to galactose accumulating in the infant’s body, damaging the central nervous system, the liver as well as other systems in the infant’s body and causing mental retardation, kidney failure, and cataract formation. Infants with this disease cannot have any milk, either human or animal, as milk is the primary source of galactose. This disease is treated by a strict diet void of milk products and any other foods containing galactose for life.
During the newborn screening in Colorado, the infant is screened for hearing loss, which is important to the development of the infant’s speech and language. Even though it is not life threatening, this screening is very important to the development of the infant and its ability to communicate.