American College of Medical Genetics (ACMG) Recommended Newborn Screening PanelThe Office of Public Health Newborn Screening Program tests infants for the following genetic diseases:
Disorders of Amino Acid Metabolism
This group of disorders occurs when a child is missing an enzyme needed to break down proteins. All of these disorders cause a build-up of toxic byproducts in the body which lead to damage to the brain and nervous system. These infants usually appear normal when they are born but can later develop poor feeding, weakness, seizures, coma and death. If these conditions are treated early with a special diet and medications, it is possible to prevent brain damage and death.
Babies with this disease can not process the amino acid called phenylalanine. Phenylalanine builds up in the body and causes brain damage. PKU occurs in approximately 1 in every 19,000 newborns. Unless it is treated early with a special diet, PKU leads to severe mental retardation. Persons of European descent have a higher risk.
Homocystinuria occurs in one of every 344,000 births. Affected babies do not have the enzyme to break down a substance called methionine. It can cause mental retardation, eye problems osteoporosis and stroke. Homocystinuria is treated with a special diet, vitamins B6 and B12 and other supplements.
Argininosuccinic Aciduria (ASA)
Argininosuccinic Aciduria occurs in one of every 70,000 births. A baby with ASA is missing an enzyme that is needed to remove ammonia from the blood. If it is not treated early, ammonia builds up in the body and causes brain damage and sometimes death. ASA is treated with a low-protein diet, medications to prevent ammonia build-up, dietary supplements, and in some cases, liver transplant. Affected persons must not go for long periods without eating.
Maple Syrup Urine Disease (MSUD)
MSUD occurs in about one of every 180,000 births. Babies with MSUD can not process three specific amino acids found in proteins. The disease gets its name from the fact that the baby’s urine smells like maple syrup. MSUD can cause mental retardation and death. It is treated with a low protein diet and sometimes with the vitamin, thiamine.
Citrullinemia occurs in approximately one of every 70,000 births. Babies with this disease can not remove ammonia from their blood and as a result develop seizures, brain damage and death. Babies can develop normally if they are treated early with a low-protein diet, medications to prevent ammonia build-up and dietary supplements.
Disorders of Fatty Acid Metabolism
Newborns with these disorders are missing an enzyme that allows them to break down and use fats. Affected babies can develop repeated episodes of low blood sugar, liver failure, coma and death. People with these disorders must avoid going without food and may also be treated with a low fat diet and carnitine supplements. Early treatment can prevent disability and death.
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
MCADD occurs in one of every 20,000 births. Babies with this disease can not change fat into energy. If this problem is not found and treated early, it can cause seizures, liver failure, coma and death. MCADD is treated with dietary supplements and persons with this disease must avoid going for long periods without food. MCAD is the most common of the fatty acid oxidation disorders, with about one affected baby in every 10,000 to 20,000 births.
LCHAD and VLCAD are rare disorders with about one in every 100,000 newborns affected.
Disorders of Organic Acid Metabolism
Babies with one of the organic acid disorders are missing a specific enzyme needed to break down proteins. As a result, toxic byproducts build up in the body. Newborns with these disorders usually look normal at first but then can develop vomiting, poor feeding, seizures and coma. Many of the organic acid disorders may also cause death during infancy. The number of babies born with each of the diseases ranges from one in every 20,000 births to less than one in every 200,000 births. Early treatment with a low-protein diet and carnitine supplements can prevent developmental delay and deaths in affected infants.
Sickle Cell Disease (SCD)
SCD is a blood disease that causes episodes of severe pain, damage to vital organs such as the lungs and kidneys and sometimes death. About 1 in every 2,500 newborns has a form of SCD. Persons of African or Mediterranean descent have a higher risk. Children with SCD can get serious bacterial infections such as pneumonia or meningitis. Treatments are different according to the severity of symptoms, but may include pain medications, penicillin and blood transfusions.
Congenital Hypothyroidism (CH)
CH is present in about 1 of every 3,500 newborns. Babies with this disease can not make enough thyroid hormone and they develop mental retardation and growth retardation. Babies can develop normally if they start taking thyroid hormone replacement medication by 1 month of age.
This is an enzyme deficiency that occurs in about 1 of every 60,000 newborns. It can cause seizures, hearing loss, mental retardation and death. It is treated with daily doses of the vitamin biotin.
Babies with GAL do not have the liver enzyme they need to break down the milk sugar galactose. GAL occurs in about 1 in 50,000 newborns and it can lead to blindness, liver damage, mental retardation and death. It is treated by removing galactose from the diet, usually by using soy instead of dairy products. There are also less severe forms of galactosemia that may not need any treatment.
Hearing loss (HEAR)
Louisiana law requires that every baby born in a birthing center in Louisiana be screened for hearing loss before discharge. The Department of Health and Hospitals is the state agency designated by the law to administer the newborn hearing screening program. The mission of this program is to assure that all infants who are deaf or hard of hearing can achieve their maximum potential in life. That is accomplished by assuring that early intervention services are secured as soon as possible. Early intervention may include the fitting of hearing aids and early developmental services before the child reaches six months of age. The Office of Public Health maintains a Hearing, Speech and Vision Program to address the needs of children with hearing loss. Contact the program for more information at 504.568.5028 (phone) or 504.568.5854 (fax), or email Avis.Richard-Griffin@la.gov.