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Disorders detectable by screening

Sunday, January 30, 2000

Pittsburgh Post-Gazette

Here are just a few of the metabolic disorders that can be detected by newborn screening tests:

Biotinidase deficiency

Frequency: 1/80,000 births

Possible effects: Mental retardation, early death

Treatment: Add vitamin biotin to diet

Congenital Adrenal Hyperplasia

Frequency: 1/16,000 births

Possible effects: Genital deformities, early death

Treatment: Hormone replacement

Congenital hypothyroidism

Frequency: 1/4,500 births

Possible effects: Growth delay, deafness, mental retardation

Treatment: Hormone replacement


Frequency: 1/45,000 births

Possible effects: Liver disease, mental retardation, early death

Treatment: Limit dietary intake of the sugar galactose

Glutaric Acidemia Type I

Frequency: 1/30,000 births (higher among Lancaster County Amish)

Possible effects: Mental retardation, seizures

Treatment: Low-protein diet

Maple Syrup Urine Disease (MSUD)

Frequency: 1/175,000 births worldwide, 1/70,000 in Pennsylvania

Possible effects: Convulsions, coma, early death

Treatment: Low-protein diet

Phenylketonuria (PKU)

Frequency: 1/13,000 Caucasian births

Possible effects: Seizures, mental retardation

Treatment: Low-protein diet

Sickle Cell Disease

Frequency: 1/1,300 births, 1/400 African-descent births

Possible effects: Anemia, infection, early death

Treatment: Folic acid, antibiotics

Source: Neo Gen Screening Inc.

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