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References in periodicals archive ?
The nine mandated disorders are biotinidase deficiency, congenital adrenal hyperplasia, hypothyroidism, hemoglobinopathies, toxoplasmosis, galactosemia, phenylketonuria (PKU), maple syrup urine disease (MSUD), and homocystinuria (HCU).
It also screens for biotinidase, cystic fibrosis, congenital adrenal hyperplasia, and hearing.
Some newborn screening systems include tests for congenital adrenal hyperplasia, homocystinuria, maple syrup urine disease, and biotinidase deficiency.
Testing uses mentioned: Sex selection, cystic fibrosis (CF), Fragile X syndrome, preeclampsia, Down's syndrome, Noonan's syndrome, Batten disease, Duchenne muscular dystrophy, cleft lip, neural tube defects, gastroschisis, clubfoot, intra-amniotic infection, congenital hypothyroidism, biotinidase deficiency, sickle cell anemia, congenital adrenal hyperplasia, phenylketonuria, Tay-Sachs disease, Huntington's disease, polycystic kidney disease (adult), hemophilia A, CHILD syndrome.
Many more tests followed, including those for congenital adrenal hyperplasia and biotinidase deficiency, which also were developed with support from the March of Dimes.
Electrophoresis techniques enable screening for detection of hemoglobinopathies, and enzyme assays have been established for biotinidase deficiency (8, 9).
Under the expanded program, which will begin in late 2007, three additional tests will be sourced from PerkinElmer including: congenital adrenal hyperplasia (CAH), a hormonal disorder affecting the adrenal glands; Galactosemia, which if left untreated, can cause poor development or death; and biotinidase deficiency (BIOT), which can lead to seizures, developmental delay, eczema and hearing loss.
As an example, consider a baby born with a biotinidase deficiency.
The amino terminal biotin tag of the second-generation reporter peptide Biotin-Ahx-ERGFFYPHHHHHH had to be protected from enzymatic degradation by Biotinidase (EC 3.
As a result of this targeted partnership, MCADD was added to Georgia's series of Newborn Screenings because Georgia law (OCGA 31-12-6 & 31-12-7) and Rules and Regulations (Chapter 290-5-24) now require that every live born infant have an adequate blood test for nine treatable metabolic disorders (Phenylketonuria, Congenital Hypothyroidism, Maple Syrup Urine Disease, Galactosemia, Tyrosinemia, Homocystinuria, Congenital Adrenal Hyperplasia, Biotinidase Deficiency, Medium-Chain Acyl-CoA Dehydrogenase Deficiency) and for Sickle Cell disorders.