common+conditions


 * //Phenylketonuria//** is an error in amino acid metabolism resulting in profound mental retardation. The consequences can be avoided by very early detection and a diet low in the amino acid phenylalanine. About three babies with PKU are detected each year. Testing can also identify babies with other amino acid metabolism disorders as well as babies with certain organic acid metabolism disorders.
 * //Congenital// //Hypothyroidism//** results from the lack of thyroid hormone leading to mental retardation and slow growth. If detected early, thyroid hormone can be given and the consequences reduced or eliminated. About 20 babies are found each year with primary congenital hypothyroidism.


 * Persons with** //**Hemoglobinopathies (like Sickle Cell Disease**)// may have impaired oxygen transfer ability and many painful and life-threatening conditions, some of which can be prevented through early diagnosis and monitoring. About 100 babies a year are identified with hemoglobinopathy disorders including sickle cell disease while another 2,400 are identified as carriers.


 * //Galactosemia//** is caused by an inability to metabolize galactose, a component of lactose found in milk and other foods. Serious gastrointestinal disturbances, failure to gain weight and jaundice may occur. Children with untreated galactosemia develop mental retardation, cataracts and speech delay. Some babies die in the early neonatal period from bacterial sepsis. If detected early, diets low in galactose can minimize the effects of the condition. About one baby a year is born with this condition. Other, less severe forms of galactosemia can also be found through this testing. In SC, around 15 babies are found with less severe forms of galactosemia each year.

more common conditions
 * //Congenital adrenal hyperplasia//** is an enzyme defect that affects the functioning of the adrenal gland with the overproduction of testosterone. Children with CAH may begin puberty at 3-5 years of age. In some cases, the child may experience dehydration, shock and death. Administration of adrenal hormones can prevent some serious consequences. About three babies a year are identified with this condition.

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