Before revision: Iisovaleric acidemia (IVA) Homocystinuria (pyridoxine unresponsive) (HCU) 17-hydroxy-progesterone (17-OHP) to detect adrenogenital syndrome, also known as congenital adrenal hyperplasia Mechanism The test uses the growth of a strain of bacteria on a specially-prepared agar plate as a sign for the presence of high levels of phenylalanine, phenylpyruvate, and/or phenyllactate.
After revision: GalactosemiaIisovaleric acidemia (IVA) Homocystinuria (pyridoxine unresponsive) (HCU) 17-hydroxy-progesterone (17-OHP) to detect adrenogenital syndrome, also known as congenital adrenal hyperplasia Mechanism The test uses the growth of a strain of bacteria on a specially-prepared agar plate as a sign for the presence of high levels of phenylalanine, phenylpyruvate, and/or phenyllactate.