Newborn Screening in New Mexico

Newborn screening in New Mexico covers 27 disorders that can cause many health problems including mental retardation, developmental delays, seizures, hypoglycemia, comas and death. This can be frightening news for parents of newborns, especially if they are notified that their newborn has tested positive for one of these disorders. But, the good news for these parents is that with early treatment, most infants who have one of these disorders can often live a healthy, happy life, making early detection and early treatment key.

3-OH 3-CH3 glutaric aciduria, isovaleric academia; methylmalonic acidemia; mitochondrial acetoacetyl-CoA thiolase deficiency; multiple carboxylase deficiency; glutaric acidemia type I; proponic acidemia and 3-methylcrotonyl-CoA deficiency are all organic acid disorders. Organic acid disorders can lead to brain damage, seizures, mental retardation, coma and death. Treatment varies, according to which disorder is being treated, but will usually include a specialized diet, nutritional supplements and staying on a strict meal schedule.

Argininocussinic acidemia, citrullinemia; homocystinuria; maple syrup urine disease; phenylketonuria; tyrosinemia type I are all amino acid disorders. Amino acid disorders can lead to mental retardation, brain damage, vision loss, skeletal abnormalties, stroke, coma and death. Treatment also varies according to the disorder the infant has been diagnosed with, but usually includes a special diet, nutritional supplements, close medical monitoring, staying on schedule and sometimes a liver transplant.

Biotinidase deficiency and cystic fibrosis are both genetic disorders. Genetic disorders can lead to severe infections, deafness, seizures, uncoordinated movement, mental retardation, lung problems, digestive disorders, coma and death. Treatment, once again, will depend on which disorder the infant has been diagnosed, biotinidase deficiency is treated with biotin supplements and cystic fibrosis is treated with a specialized diet, vitamin and medical supplementations, respiratory therapy and antibiotics.

Hb S/beta-thalassemia and sickle cell anemia are both hemoglobinopathies. Hemoglobinopathies are inherited red blood cell diseases that are responsible for abnormal kinds or amounts of hemoglobin in the infant's red blood cells. These disorders can lead to severe pain and organ damage, but with proper treatment, including pain medication, blood transfusions and antibiotics, can be positively treated.

Congenital adrenal hyperplasia and congenital hypothyroidism are both endocrine disorders. Endocrine disorders can lead to masculinization of the genitals in female infants, salt wasting disease, mental retardation, growth retardation, infection and death. Treatment for these disorders are thyroid therapies with the thyroid that is missing to cause the disorder.

Galactosemia is a metabolic disorder that is responsible for damaged vital organs, blindness, mental retardation, infection and even death. Treatment begins with a special diet which eliminates milk and diary products from the infant's meals for life.

Carnitine uptake defect; long-chain L-3-OH acyl-CoA dehydrogenase deficiency; medium chain acyl-CoA dehydrogenase deficiency; trifunctional protein deficiency and very long-chain acyl-CoA dehydrogenase are fatty acid disorders. Fatty acid disorders can be responsible for seizures, liver failure, heart failure and death. Treatment for these disorders is to avoiding any fasting, taking nutritional supplements, keeping to a special diet, avoiding any prolonged exercising and sometimes a prescription of carnitine will be needed.