deficiency

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deficiency

Biology the absence of a gene or a region of a chromosome normally present
References in periodicals archive ?
In July, the state added newborn screening for biotinidase deficiency, congenital adrenal hyperplasia (CAH), cystic fibrosis, and maple syrup urine disease.
The nine mandated disorders are biotinidase deficiency, congenital adrenal hyperplasia, hypothyroidism, hemoglobinopathies, toxoplasmosis, galactosemia, phenylketonuria (PKU), maple syrup urine disease (MSUD), and homocystinuria (HCU).