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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
Galactosemia
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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