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Pregnancy & ChildbirthWellness & PreventionTreatment & Care

Newborn Screening Tests Required in Louisiana

Louisiana law requires that all babies born in Louisiana be tested for the following disorders, as part of the newborn screening process. According to the Louisiana Department of Health and Hospitals (DHH), by the fall of 2006, the state will screen for all of the disorders recommended by the American College of Medical Genetics (ACMG) except for cystic fibrosis (CF). Plans are underway for adding cystic fibrosis by July of 2007.

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. Affected persons must not go for long periods without eating.

ASA is treated with:

  • A low-protein diet
  • Medications to prevent ammonia build-up
  • Dietary supplements
  • In some cases, liver transplant.

 

Biotinidase Deficiency
This is an enzyme deficiency that occurs in about 1 of every 60,000 newborns. It can cause:

  • Seizures
  • Hearing loss
  • Mental retardation
  • Death

It is treated with daily doses of the vitamin biotin.

Citrullinemia
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
  • Dietary supplements.

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.

Galactosemia (GAL)
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
  • 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.

Homocystinuria
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
  • Stroke

Homocystinuria is treated with:

  • A special diet
  • Vitamins B6 and B12
  • Other supplements

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.

Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD)
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
  • Death

MCADD is treated with dietary supplements and persons with this disease must avoid going for long periods without food.

Phenylketonuria (PKU)
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.

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
  • Blood transfusions

Source: Louisiana Department of Health and Hospitals website