Many Preventable and Treatable Biochemical Disorders Should Be Discovered After Birth
Everyone is probably familiar with the fact that newborn infants are routinely screened for hypothyroidism. Well, not only is it routine, it is mandatory. Since 1977, hypothyroidism and, over time, a number of other potential debilitating disorders are required to be screened in all newborn infants born in New Jersey.
The state legislature has wisely mandated the testing of newborn infants for the following preventable and treatable biochemical disorders, which – if left untreated – could cause mental retardation or other permanent disbilities:
- HYPOTHYROIDISM
- GALACTOSEMIA
- PHENYLKETONURIA
- SICKLE CELL ANEMIA
- MAPLE SYRUP URINE DISEASE
- CONGENITAL ADRENAL HYPERLASIA
- CYSTIC FIBROSIS
- BIOTINIDASE DEFICIENCY
- MCAD, SCAD, LCAD AND VLCCAD DEFICIENCY
- CITRULLINEMIA
- ARGINOSUCCINIC ACIDEMIA
- METHYLMALONIC ACIDEMIA
- PROPIONIC ACIDEMIA
- GLUTARIC ACIDEMIA TYPE I
- ISOVALERIC ACIDEMIA
- 3H3MCoA LYASE DEFICIENCY, AND,
- 3MCoA CARBOXYLASE DEFICIENCY
If diagnosed on a screening test, these conditions must be treated promptly.
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