Routine Disorders

Your baby will be screened for early signs of the following 10 disorders:

1. Congenital Hypothyroidism: This disorder is caused by the lack of thyroid hormone, which can lead to poor growth and mental retardation. If found early and treated with thyroid medication, a child will grow and develop normally.
   
   
2. Phenylketonuria(PKU): This disorder is caused when a baby's body is not able to break down the amino acid, phenylalanine, which is found in the protein of foods. If detected early and the baby is started on a special low phenylalanine diet, mental retardation is prevented.
   
   
3. Hemoglobin Disorders: These disorders include Sickle Cell Disease, a condition caused by a change in the red blood cells. It means the baby is more likely to have anemia, episodes of pain, strokes, and life-threatening infections. Treatment with penicillin may prevent serious infections in early childhood.
   
   
4. Congenital Toxoplasmosis: This disorder is an infection that can be either mild or severe. In a young baby, this infection may lead to mental retardation, blindness, and other defects. Early treatment with medications may reduce the risk of serious problems.
   
   
5. Biotinidase Deficiency: The disorder is caused by the lack of an enzyme called biotinidase. This disorder can lead to seizures, developmental delay, eczema, and hearing loss. Problems can be prevented with biotin treatment.
   
   
6. Galactosemia: This disorder occurs when a baby cannot break down the galactose part of milk sugar. In some cases, life threatening damage to the brain and liver can occur as early as one week after birth. When started early, a special milk-free diet prevents these problems.
   
   
7. "Maple Syrup" Urine Disease (MSUD): This disorder is caused by not being able to break down several amino acids. It can result in mental retardation, seizures, or death. The name of the disorder comes from the distinctive maple syrup odor of the urine. When detected early, infants are put on a special diet to avoid the severe effects of the disease.
   
   
8. Homocystinuria: This disorder is caused by not being able to break down the amino acid, methionine. This disorder can lead to mental retardation, eye problems, and blood clots. When detected early, infants are put on a low methionine diet to avoid these problems.
   
   
9. Congenital Adrenal Hyperplasia: This disorder is caused by the lack of an enzyme that the adrenal gland uses to process hormones. In girls, the genitalia may appear as male. Serious loss of body salt and water, even death, may occur in either sex. Treatments are available to correct the condition.
   
   
10. Medium-chain acyl Co-A dehydrogenase deficiency (MCAD): This disorder can cause metabolic crisis when an infant "fasts" (goes for a long period of time without eating, such as during an illness). This kind of metabolic crisis can sometimes lead to seizures, failure to breathe, cardiac arrest and death. The main focus of treatment is to prevent a metabolic crisis from happening. Treatment is effective and focuses on preventing long fasts.