AutoDELFIA tests: Galactosemia, Biotinidase deficiency
, Cystic fibrosis, Hypothyroidism, Congenital Adrenal Hyperplasia.
has an inexpensive and reliable screening test, it is easily treatable and has a high morbidity and mortality in untreated cases.
and galactosemia cannot be screened by tandem mass spectrometry.
In July, the state added newborn screening for biotinidase deficiency
, congenital adrenal hyperplasia (CAH), cystic fibrosis, and maple syrup urine disease.
It is noteworthy that a small fraction of infants with biotinidase deficiency
will have increased C50H.
The nine mandated disorders are biotinidase deficiency
, congenital adrenal hyperplasia, hypothyroidism, hemoglobinopathies, toxoplasmosis, galactosemia, phenylketonuria (PKU), maple syrup urine disease (MSUD), and homocystinuria (HCU).
Ongoing research in disciplines including cell biology, biochemistry, enzymology and genetics (aided by increasing sophistication of techniques such as electron microscopy, chromatography, and spectrophotometry) enabled development of tests for congenital hypothyroidism, biotinidase deficiency
, congenital adrenal hyperplasia, and hemoglobinopathies such as sickle cell disease.